Canonical Allele Identifier: CA410533308

Gene: COL6A1

Linked Data

• gnomAD v4: 21-46001298-C-T
• MyVariant Identifiers: chr21:g.47421212C>T (hg19) ; chr21:g.46001298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001298C>T , CM000683.2:g.46001298C>T	GRCh38
NC_000021.8:g.47421212C>T , CM000683.1:g.47421212C>T	GRCh37
NC_000021.7:g.46245640C>T	NCBI36
NG_008674.1:g.24550C>T , LRG_475:g.24550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.267C>T
ENST00000361866.8:c.1868C>T MANE Select	ENSP00000355180.3:p.Ser623Leu
ENST00000361866.7:c.1868C>T	ENSP00000355180.3:p.Ser623Leu
ENST00000463060.5:n.267C>T
ENST00000498614.5:n.102C>T
ENST00000612273.1:c.1862C>T	ENSP00000483630.1:p.Ser621Leu
NM_001848.2:c.1868C>T , LRG_475t1:c.1868C>T	NP_001839.2:p.Ser623Leu
NM_001848.3:c.1868C>T MANE Select	NP_001839.2:p.Ser623Leu