Canonical Allele Identifier: CA2392434336

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990596C= , CM000683.2:g.45990596C=	GRCh38
NC_000021.8:g.47410510C= , CM000683.1:g.47410510C=	GRCh37
NC_000021.7:g.46234938C=	NCBI36
NG_008674.1:g.13848C= , LRG_475:g.13848C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+174C= MANE Select	ENSP00000355180.3:n.1002+174C=
ENST00000361866.7:c.1002+174C=	ENSP00000355180.3:n.1002+174C=
ENST00000612273.1:c.1002+174C=	ENSP00000483630.1:n.1002+174C=
NM_001848.2:c.1002+174C= , LRG_475t1:c.1002+174C=	NP_001839.2:n.1002+174C=
NM_001848.3:c.1002+174C= MANE Select	NP_001839.2:n.1002+174C=