Canonical Allele Identifier: CA2392432265

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987794G= , CM000683.2:g.45987794G=	GRCh38
NC_000021.8:g.47407708G= , CM000683.1:g.47407708G=	GRCh37
NC_000021.7:g.46232136G=	NCBI36
NG_008674.1:g.11046G= , LRG_475:g.11046G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+140G= MANE Select	ENSP00000355180.3:n.804+140G=
ENST00000361866.7:c.804+140G=	ENSP00000355180.3:n.804+140G=
ENST00000612273.1:c.804+140G=	ENSP00000483630.1:n.804+140G=
NM_001848.2:c.804+140G= , LRG_475t1:c.804+140G=	NP_001839.2:n.804+140G=
NM_001848.3:c.804+140G= MANE Select	NP_001839.2:n.804+140G=