Canonical Allele Identifier: CA10581322

Gene: MYT1L

Linked Data

• ClinVar Variation Id: 235469
• ClinVar RCV Id: RCV000224698 ; RCV000754090 ; RCV001257695
• dbSNP Id: rs878853045
• MyVariant Identifiers: chr2:g.1915795C>T (hg19) ; chr2:g.1912023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1912023C>T , CM000664.2:g.1912023C>T	GRCh38
NC_000002.11:g.1915795C>T , CM000664.1:g.1915795C>T	GRCh37
NC_000002.10:g.1894802C>T	NCBI36
NG_051313.1:g.424366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399161.8:c.1700G>A	ENSP00000382114.3:p.Arg567Gln
ENST00000470954.3:c.1195G>A
ENST00000602387.6:c.1201G>A
ENST00000647687.2:c.1195G>A
ENST00000648430.2:c.1201G>A
ENST00000648665.2:c.1700G>A	ENSP00000497115.1:p.Arg567Gln
ENST00000648753.2:c.1201G>A
ENST00000648931.2:c.1195G>A
ENST00000648943.2:c.1195G>A
ENST00000649641.2:c.1706G>A	ENSP00000497373.2:p.Arg569Gln
ENST00000649709.2:c.728G>A	ENSP00000497604.2:p.Arg243Gln
ENST00000649840.2:c.223G>A
ENST00000650399.2:c.506-19736G>A	ENSP00000497900.2:n.506-19736G>A
ENST00000650485.2:c.1700G>A	ENSP00000497068.1:p.Arg567Gln
ENST00000399161.7:c.1700G>A	ENSP00000382114.3:p.Arg567Gln
ENST00000428368.7:c.1706G>A	ENSP00000396103.3:p.Arg569Gln
ENST00000470954.2:c.449G>A	ENSP00000497244.1:p.Arg150Gln
ENST00000485547.2:n.53G>A
ENST00000644820.1:c.1706G>A	ENSP00000496210.1:p.Arg569Gln
ENST00000647618.1:c.1643G>A	ENSP00000497024.1:p.Arg548Gln
ENST00000647687.1:c.501G>A
ENST00000647694.1:c.1706G>A	ENSP00000497722.1:p.Arg569Gln
ENST00000647738.2:c.1706G>A MANE Select	ENSP00000497479.2:p.Arg569Gln
ENST00000647755.1:c.1700G>A	ENSP00000496922.1:p.Arg567Gln
ENST00000648316.1:c.1700G>A	ENSP00000497870.1:p.Arg567Gln
ENST00000648318.1:c.1700G>A	ENSP00000496831.1:p.Arg567Gln
ENST00000648339.1:c.1706G>A	ENSP00000497493.1:p.Arg569Gln
ENST00000648430.1:c.1201G>A
ENST00000648627.1:c.728G>A	ENSP00000497309.1:p.Arg243Gln
ENST00000648665.1:c.1700G>A	ENSP00000497115.1:p.Arg567Gln
ENST00000648753.1:c.921G>A
ENST00000648928.1:c.1700G>A	ENSP00000497017.1:p.Arg567Gln
ENST00000648931.1:c.501G>A
ENST00000648933.1:c.728G>A	ENSP00000497838.1:p.Arg243Gln
ENST00000648943.1:c.900G>A
ENST00000649207.1:c.1700G>A	ENSP00000496986.1:p.Arg567Gln
ENST00000649641.1:c.1706G>A	ENSP00000497373.1:p.Arg569Gln
ENST00000649663.1:c.1706G>A	ENSP00000497273.1:p.Arg569Gln
ENST00000649810.1:c.1477+10269G>A	ENSP00000498096.1:n.1477+10269G>A
ENST00000649840.1:c.221G>A	ENSP00000496783.1:p.Arg74Gln
ENST00000650081.1:c.*1143G>A	ENSP00000497922.1:n.*1143G>A
ENST00000650399.1:c.410-19736G>A	ENSP00000497900.1:n.410-19736G>A
ENST00000650485.1:c.1700G>A	ENSP00000497068.1:p.Arg567Gln
ENST00000650560.1:c.1703G>A	ENSP00000497816.1:p.Arg568Gln
ENST00000399161.6:c.1706G>A	ENSP00000382114.2:p.Arg569Gln
ENST00000428368.6:c.1700G>A	ENSP00000396103.2:p.Arg567Gln
ENST00000485547.1:n.53G>A
ENST00000602387.5:c.668G>A	ENSP00000473409.1:p.Arg223Gln
NM_001303052.1:c.1706G>A	NP_001289981.1:p.Arg569Gln
NM_015025.3:c.1700G>A	NP_055840.2:p.Arg567Gln
XM_011510318.1:c.1706G>A	XP_011508620.1:p.Arg569Gln
XM_011510319.1:c.1706G>A	XP_011508621.1:p.Arg569Gln
XM_011510320.1:c.1706G>A	XP_011508622.1:p.Arg569Gln
XM_011510321.1:c.1706G>A	XP_011508623.1:p.Arg569Gln
XM_011510322.1:c.1706G>A	XP_011508624.1:p.Arg569Gln
XM_011510323.1:c.1706G>A	XP_011508625.1:p.Arg569Gln
XM_011510324.1:c.1706G>A	XP_011508626.1:p.Arg569Gln
XM_011510325.1:c.1700G>A	XP_011508627.1:p.Arg567Gln
XM_011510326.1:c.1706G>A	XP_011508628.1:p.Arg569Gln
XM_011510327.1:c.1706G>A	XP_011508629.1:p.Arg569Gln
XM_011510328.1:c.1706G>A	XP_011508630.1:p.Arg569Gln
XM_011510329.1:c.1412G>A	XP_011508631.1:p.Arg471Gln
XM_011510330.1:c.1706G>A	XP_011508632.1:p.Arg569Gln
XM_011510331.1:c.1706G>A	XP_011508633.1:p.Arg569Gln
XM_011510332.1:c.1706G>A	XP_011508634.1:p.Arg569Gln
NM_001329844.1:c.1706G>A	NP_001316773.1:p.Arg569Gln
NM_001329845.1:c.1706G>A	NP_001316774.1:p.Arg569Gln
NM_001329846.1:c.1700G>A	NP_001316775.1:p.Arg567Gln
NM_001329847.1:c.1700G>A	NP_001316776.1:p.Arg567Gln
NM_001329848.1:c.1700G>A	NP_001316777.1:p.Arg567Gln
NM_001329849.1:c.1700G>A	NP_001316778.1:p.Arg567Gln
NM_001329851.1:c.1706G>A	NP_001316780.1:p.Arg569Gln
NM_001329852.1:c.1700G>A	NP_001316781.1:p.Arg567Gln
XM_011510320.3:c.1706G>A	XP_011508622.1:p.Arg569Gln
XM_011510321.2:c.1706G>A	XP_011508623.1:p.Arg569Gln
XM_011510322.2:c.1706G>A	XP_011508624.1:p.Arg569Gln
XM_011510324.2:c.1706G>A	XP_011508626.1:p.Arg569Gln
XM_011510328.2:c.1706G>A	XP_011508630.1:p.Arg569Gln
XM_011510331.2:c.1706G>A	XP_011508633.1:p.Arg569Gln
XM_011510332.2:c.1706G>A	XP_011508634.1:p.Arg569Gln
XM_017003604.1:c.1706G>A	XP_016859093.1:p.Arg569Gln
XM_017003605.1:c.1706G>A	XP_016859094.1:p.Arg569Gln
XM_017003606.1:c.1700G>A	XP_016859095.1:p.Arg567Gln
XM_017003607.2:c.1700G>A	XP_016859096.1:p.Arg567Gln
XM_017003608.1:c.1706G>A	XP_016859097.1:p.Arg569Gln
XM_017003611.1:c.1700G>A	XP_016859100.1:p.Arg567Gln
XM_017003612.1:c.1700G>A	XP_016859101.1:p.Arg567Gln
XM_017003615.1:c.1706G>A	XP_016859104.1:p.Arg569Gln
XM_017003616.1:c.1706G>A	XP_016859105.1:p.Arg569Gln
XM_017003618.1:c.1700G>A	XP_016859107.1:p.Arg567Gln
XM_017003620.1:c.1412G>A	XP_016859109.1:p.Arg471Gln
XM_017003621.1:c.1706G>A	XP_016859110.1:p.Arg569Gln
XM_017003622.1:c.1706G>A	XP_016859111.1:p.Arg569Gln
NM_001303052.2:c.1706G>A MANE Select	NP_001289981.1:p.Arg569Gln
NM_001329844.2:c.1706G>A	NP_001316773.1:p.Arg569Gln
NM_001329846.2:c.1700G>A	NP_001316775.1:p.Arg567Gln
NM_001329847.2:c.1700G>A	NP_001316776.1:p.Arg567Gln
NM_001329849.2:c.1700G>A	NP_001316778.1:p.Arg567Gln
NM_001329851.2:c.1706G>A	NP_001316780.1:p.Arg569Gln
NM_001329852.2:c.1700G>A	NP_001316781.1:p.Arg567Gln
NM_015025.4:c.1700G>A	NP_055840.2:p.Arg567Gln
NM_001329846.3:c.1700G>A	NP_001316775.1:p.Arg567Gln
NM_001329849.3:c.1700G>A	NP_001316778.1:p.Arg567Gln
NM_001329851.3:c.1706G>A	NP_001316780.1:p.Arg569Gln
NM_001329852.3:c.1700G>A	NP_001316781.1:p.Arg567Gln