Canonical Allele Identifier: CA16617406
Gene: MYT1L HGNC NCBI

Linked Data

ClinVar Variation Id: 418814
ClinVar RCV Id: RCV000483472
dbSNP Id: rs1064793449
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1922547_1922548delinsA , CM000664.2:g.1922547_1922548delinsA GRCh38
NC_000002.11:g.1926319_1926320delinsA , CM000664.1:g.1926319_1926320delinsA GRCh37
NC_000002.10:g.1905326_1905327delinsA NCBI36
NG_051313.1:g.413841_413842delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000399161.8:c.1221_1222delinsT ENSP00000382114.3:p.Glu407AspfsTer9
ENST00000470954.3:c.716_717delinsT
ENST00000602387.6:c.716_717delinsT
ENST00000647687.2:c.716_717delinsT
ENST00000648430.2:c.716_717delinsT
ENST00000648665.2:c.1221_1222delinsT ENSP00000497115.1:p.Glu407AspfsTer9
ENST00000648753.2:c.716_717delinsT
ENST00000648931.2:c.716_717delinsT
ENST00000648943.2:c.716_717delinsT
ENST00000649313.2:c.1221_1222delinsT ENSP00000496808.2:p.Glu407AspfsTer9
ENST00000649641.2:c.1221_1222delinsT ENSP00000497373.2:p.Glu407AspfsTer9
ENST00000649709.2:c.506-5209_506-5208delinsT ENSP00000497604.2:n.506-5209_506-5208deli...
ENST00000650399.2:c.505+20434_505+20435delinsT ENSP00000497900.2:n.505+20434_505+20435de...
ENST00000650485.2:c.1221_1222delinsT ENSP00000497068.1:p.Glu407AspfsTer9
ENST00000399161.7:c.1221_1222delinsT ENSP00000382114.3:p.Glu407AspfsTer9
ENST00000428368.7:c.1221_1222delinsT ENSP00000396103.3:p.Glu407AspfsTer9
ENST00000644820.1:c.1221_1222delinsT ENSP00000496210.1:p.Glu407AspfsTer9
ENST00000647618.1:c.1158_1159delinsT ENSP00000497024.1:p.Glu386AspfsTer9
ENST00000647687.1:c.22_23delinsT
ENST00000647694.1:c.1221_1222delinsT ENSP00000497722.1:p.Glu407AspfsTer9
ENST00000647738.2:c.1221_1222delinsT MANE Select ENSP00000497479.2:p.Glu407AspfsTer9
ENST00000647755.1:c.1221_1222delinsT ENSP00000496922.1:p.Glu407AspfsTer9
ENST00000648316.1:c.1221_1222delinsT ENSP00000497870.1:p.Glu407AspfsTer9
ENST00000648318.1:c.1221_1222delinsT ENSP00000496831.1:p.Glu407AspfsTer9
ENST00000648339.1:c.1221_1222delinsT ENSP00000497493.1:p.Glu407AspfsTer9
ENST00000648430.1:c.716_717delinsT
ENST00000648627.1:c.506-5209_506-5208delinsT ENSP00000497309.1:n.506-5209_506-5208deli...
ENST00000648665.1:c.1221_1222delinsT ENSP00000497115.1:p.Glu407AspfsTer9
ENST00000648753.1:c.436_437delinsT
ENST00000648928.1:c.1221_1222delinsT ENSP00000497017.1:p.Glu407AspfsTer9
ENST00000648931.1:c.22_23delinsT
ENST00000648933.1:c.506-5209_506-5208delinsT ENSP00000497838.1:n.506-5209_506-5208deli...
ENST00000648943.1:c.421_422delinsT
ENST00000649207.1:c.1221_1222delinsT ENSP00000496986.1:p.Glu407AspfsTer9
ENST00000649313.1:c.1221_1222delinsT ENSP00000496808.1:p.Glu407AspfsTer?
ENST00000649641.1:c.1221_1222delinsT ENSP00000497373.1:p.Glu407AspfsTer9
ENST00000649663.1:c.1221_1222delinsT ENSP00000497273.1:p.Glu407AspfsTer9
ENST00000649709.1:c.506-5209_506-5208delinsT ENSP00000497604.1:n.506-5209_506-5208deli...
ENST00000649810.1:c.1221_1222delinsT ENSP00000498096.1:p.Glu407AspfsTer9
ENST00000650081.1:c.*658_*659delinsT ENSP00000497922.1:n.*658_*659delinsT
ENST00000650399.1:c.409+20434_409+20435delinsT ENSP00000497900.1:n.409+20434_409+20435de...
ENST00000650485.1:c.1221_1222delinsT ENSP00000497068.1:p.Glu407AspfsTer9
ENST00000650560.1:c.1218_1219delinsT ENSP00000497816.1:p.Glu406AspfsTer9
ENST00000399161.6:c.1221_1222delinsT ENSP00000382114.2:p.Glu407AspfsTer9
ENST00000428368.6:c.1221_1222delinsT ENSP00000396103.2:p.Glu407AspfsTer9
ENST00000602387.5:c.183_184delinsT ENSP00000473409.1:p.Glu61AspfsTer9
NM_001303052.1:c.1221_1222delinsT NP_001289981.1:p.Glu407AspfsTer9
NM_015025.3:c.1221_1222delinsT NP_055840.2:p.Glu407AspfsTer9
XM_011510318.1:c.1221_1222delinsT XP_011508620.1:p.Glu407AspfsTer9
XM_011510319.1:c.1221_1222delinsT XP_011508621.1:p.Glu407AspfsTer9
XM_011510320.1:c.1221_1222delinsT XP_011508622.1:p.Glu407AspfsTer9
XM_011510321.1:c.1221_1222delinsT XP_011508623.1:p.Glu407AspfsTer9
XM_011510322.1:c.1221_1222delinsT XP_011508624.1:p.Glu407AspfsTer9
XM_011510323.1:c.1221_1222delinsT XP_011508625.1:p.Glu407AspfsTer9
XM_011510324.1:c.1221_1222delinsT XP_011508626.1:p.Glu407AspfsTer9
XM_011510325.1:c.1221_1222delinsT XP_011508627.1:p.Glu407AspfsTer9
XM_011510326.1:c.1221_1222delinsT XP_011508628.1:p.Glu407AspfsTer9
XM_011510327.1:c.1221_1222delinsT XP_011508629.1:p.Glu407AspfsTer9
XM_011510328.1:c.1221_1222delinsT XP_011508630.1:p.Glu407AspfsTer9
XM_011510329.1:c.927_928delinsT XP_011508631.1:p.Glu309AspfsTer9
XM_011510330.1:c.1221_1222delinsT XP_011508632.1:p.Glu407AspfsTer9
XM_011510331.1:c.1221_1222delinsT XP_011508633.1:p.Glu407AspfsTer9
XM_011510332.1:c.1221_1222delinsT XP_011508634.1:p.Glu407AspfsTer9
NM_001329844.1:c.1221_1222delinsT NP_001316773.1:p.Glu407AspfsTer9
NM_001329845.1:c.1221_1222delinsT NP_001316774.1:p.Glu407AspfsTer9
NM_001329846.1:c.1221_1222delinsT NP_001316775.1:p.Glu407AspfsTer9
NM_001329847.1:c.1221_1222delinsT NP_001316776.1:p.Glu407AspfsTer9
NM_001329848.1:c.1221_1222delinsT NP_001316777.1:p.Glu407AspfsTer9
NM_001329849.1:c.1221_1222delinsT NP_001316778.1:p.Glu407AspfsTer9
NM_001329851.1:c.1221_1222delinsT NP_001316780.1:p.Glu407AspfsTer9
NM_001329852.1:c.1221_1222delinsT NP_001316781.1:p.Glu407AspfsTer9
XM_011510320.3:c.1221_1222delinsT XP_011508622.1:p.Glu407AspfsTer9
XM_011510321.2:c.1221_1222delinsT XP_011508623.1:p.Glu407AspfsTer9
XM_011510322.2:c.1221_1222delinsT XP_011508624.1:p.Glu407AspfsTer9
XM_011510324.2:c.1221_1222delinsT XP_011508626.1:p.Glu407AspfsTer9
XM_011510328.2:c.1221_1222delinsT XP_011508630.1:p.Glu407AspfsTer9
XM_011510331.2:c.1221_1222delinsT XP_011508633.1:p.Glu407AspfsTer9
XM_011510332.2:c.1221_1222delinsT XP_011508634.1:p.Glu407AspfsTer9
XM_017003604.1:c.1221_1222delinsT XP_016859093.1:p.Glu407AspfsTer9
XM_017003605.1:c.1221_1222delinsT XP_016859094.1:p.Glu407AspfsTer9
XM_017003606.1:c.1221_1222delinsT XP_016859095.1:p.Glu407AspfsTer9
XM_017003607.2:c.1221_1222delinsT XP_016859096.1:p.Glu407AspfsTer9
XM_017003608.1:c.1221_1222delinsT XP_016859097.1:p.Glu407AspfsTer9
XM_017003611.1:c.1221_1222delinsT XP_016859100.1:p.Glu407AspfsTer9
XM_017003612.1:c.1221_1222delinsT XP_016859101.1:p.Glu407AspfsTer9
XM_017003615.1:c.1221_1222delinsT XP_016859104.1:p.Glu407AspfsTer9
XM_017003616.1:c.1221_1222delinsT XP_016859105.1:p.Glu407AspfsTer9
XM_017003618.1:c.1221_1222delinsT XP_016859107.1:p.Glu407AspfsTer9
XM_017003620.1:c.927_928delinsT XP_016859109.1:p.Glu309AspfsTer9
XM_017003621.1:c.1221_1222delinsT XP_016859110.1:p.Glu407AspfsTer9
XM_017003622.1:c.1221_1222delinsT XP_016859111.1:p.Glu407AspfsTer9
NM_001303052.2:c.1221_1222delinsT MANE Select NP_001289981.1:p.Glu407AspfsTer9
NM_001329844.2:c.1221_1222delinsT NP_001316773.1:p.Glu407AspfsTer9
NM_001329846.2:c.1221_1222delinsT NP_001316775.1:p.Glu407AspfsTer9
NM_001329847.2:c.1221_1222delinsT NP_001316776.1:p.Glu407AspfsTer9
NM_001329849.2:c.1221_1222delinsT NP_001316778.1:p.Glu407AspfsTer9
NM_001329851.2:c.1221_1222delinsT NP_001316780.1:p.Glu407AspfsTer9
NM_001329852.2:c.1221_1222delinsT NP_001316781.1:p.Glu407AspfsTer9
NM_015025.4:c.1221_1222delinsT NP_055840.2:p.Glu407AspfsTer9
NM_001329846.3:c.1221_1222delinsT NP_001316775.1:p.Glu407AspfsTer9
NM_001329849.3:c.1221_1222delinsT NP_001316778.1:p.Glu407AspfsTer9
NM_001329851.3:c.1221_1222delinsT NP_001316780.1:p.Glu407AspfsTer9
NM_001329852.3:c.1221_1222delinsT NP_001316781.1:p.Glu407AspfsTer9
Search 100 bp 5'
Search 100 bp 3'