Canonical Allele Identifier: CA410528700

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45997715-C-T
• COSMIC: COSM4989718
• MyVariant Identifiers: chr21:g.47417629C>T (hg19) ; chr21:g.45997715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45997715C>T , CM000683.2:g.45997715C>T	GRCh38
NC_000021.8:g.47417629C>T , CM000683.1:g.47417629C>T	GRCh37
NC_000021.7:g.46242057C>T	NCBI36
NG_008674.1:g.20967C>T , LRG_475:g.20967C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683550.1:n.252C>T
ENST00000361866.8:c.1477C>T MANE Select	ENSP00000355180.3:p.Pro493Ser
ENST00000361866.7:c.1477C>T	ENSP00000355180.3:p.Pro493Ser
ENST00000612273.1:c.1477C>T	ENSP00000483630.1:p.Pro493Ser
NM_001848.2:c.1477C>T , LRG_475t1:c.1477C>T	NP_001839.2:p.Pro493Ser
NM_001848.3:c.1477C>T MANE Select	NP_001839.2:p.Pro493Ser