Canonical Allele Identifier: CA2577628540

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990834A>C , CM000683.2:g.45990834A>C	GRCh38
NC_000021.8:g.47410748A>C , CM000683.1:g.47410748A>C	GRCh37
NC_000021.7:g.46235176A>C	NCBI36
NG_008674.1:g.14086A>C , LRG_475:g.14086A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.1056+8A>C MANE Select	ENSP00000355180.3:n.1056+8A>C
ENST00000361866.7:c.1056+8A>C	ENSP00000355180.3:n.1056+8A>C
ENST00000612273.1:c.1056+8A>C	ENSP00000483630.1:n.1056+8A>C
NM_001848.2:c.1056+8A>C , LRG_475t1:c.1056+8A>C	NP_001839.2:n.1056+8A>C
NM_001848.3:c.1056+8A>C MANE Select	NP_001839.2:n.1056+8A>C