Canonical Allele Identifier: CA410523439

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47410723G>T (hg19) ; chr21:g.45990809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990809G>T , CM000683.2:g.45990809G>T	GRCh38
NC_000021.8:g.47410723G>T , CM000683.1:g.47410723G>T	GRCh37
NC_000021.7:g.46235151G>T	NCBI36
NG_008674.1:g.14061G>T , LRG_475:g.14061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1039G>T MANE Select	ENSP00000355180.3:p.Gly347Cys
ENST00000361866.7:c.1039G>T	ENSP00000355180.3:p.Gly347Cys
ENST00000612273.1:c.1039G>T	ENSP00000483630.1:p.Gly347Cys
NM_001848.2:c.1039G>T , LRG_475t1:c.1039G>T	NP_001839.2:p.Gly347Cys
NM_001848.3:c.1039G>T MANE Select	NP_001839.2:p.Gly347Cys