Canonical Allele Identifier: CA512712295
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs886044503
MyVariant Identifiers: chr21:g.47409015G>T (hg19) chr21:g.45989101G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989101G>T , CM000683.2:g.45989101G>T GRCh38
NC_000021.8:g.47409015G>T , CM000683.1:g.47409015G>T GRCh37
NC_000021.7:g.46233443G>T NCBI36
NG_008674.1:g.12353G>T , LRG_475:g.12353G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.822G>T MANE Select ENSP00000355180.3:p.Pro274=
ENST00000361866.7:c.822G>T ENSP00000355180.3:p.Pro274=
ENST00000612273.1:c.822G>T ENSP00000483630.1:p.Pro274=
NM_001848.2:c.822G>T , LRG_475t1:c.822G>T NP_001839.2:p.Pro274=
NM_001848.3:c.822G>T MANE Select NP_001839.2:p.Pro274=
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Search 100 bp 3'