Canonical Allele Identifier: CA410516477

Gene: COL6A1

Linked Data

• MyVariant Identifiers: chr21:g.47404385T>C (hg19) ; chr21:g.45984471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984471T>C , CM000683.2:g.45984471T>C	GRCh38
NC_000021.8:g.47404385T>C , CM000683.1:g.47404385T>C	GRCh37
NC_000021.7:g.46228813T>C	NCBI36
NG_008674.1:g.7723T>C , LRG_475:g.7723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.428+2T>C MANE Select	ENSP00000355180.3:n.428+2T>C
ENST00000361866.7:c.428+2T>C	ENSP00000355180.3:n.428+2T>C
ENST00000612273.1:c.428+2T>C	ENSP00000483630.1:n.428+2T>C
NM_001848.2:c.428+2T>C , LRG_475t1:c.428+2T>C	NP_001839.2:n.428+2T>C
NM_001848.3:c.428+2T>C MANE Select	NP_001839.2:n.428+2T>C