Canonical Allele Identifier: CA7347243
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2247302
ClinVar RCV Id: RCV004102539
dbSNP Id: rs776884006
ExAC: 14:101349174 G / A
gnomAD v2: 14-101349174-G-A
gnomAD v3: 14-100882837-G-A
gnomAD v4: 14-100882837-G-A
COSMIC: COSM5136927
MyVariant Identifiers: chr14:g.101349174G>A (hg19) chr14:g.100882837G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882837G>A , CM000676.2:g.100882837G>A GRCh38
NC_000014.8:g.101349174G>A , CM000676.1:g.101349174G>A GRCh37
NC_000014.7:g.100418927G>A NCBI36
NG_045001.1:g.7011C>T
NG_045000.5:g.51569G>A
NG_045000.6:g.51569G>A
NG_045001.2:g.25886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1952C>T MANE Select ENSP00000497482.1:p.Pro651Leu
ENST00000534062.1:c.1952C>T ENSP00000435342.1:p.Pro651Leu
NM_001134888.2:c.1952C>T NP_001128360.1:p.Pro651Leu
NM_001134888.3:c.1952C>T MANE Select NP_001128360.1:p.Pro651Leu
Search 100 bp 5'
Search 100 bp 3'