Canonical Allele Identifier: CA1337608533

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340526A= , CM000664.2:g.237340526A=	GRCh38
NC_000002.11:g.238249169A= , CM000664.1:g.238249169A=	GRCh37
NC_000002.10:g.237913908A=	NCBI36
NG_008676.1:g.78682T= , LRG_473:g.78682T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1035T=
ENST00000353578.9:c.7772T=	ENSP00000315873.4:p.Leu2591=
ENST00000682957.1:c.393T=
ENST00000684508.1:n.657T=
ENST00000295550.9:c.8390T= MANE Select	ENSP00000295550.4:p.Leu2797=
ENST00000295550.8:c.8390T=	ENSP00000295550.4:p.Leu2797=
ENST00000347401.7:c.6566T=	ENSP00000315609.4:p.Leu2189=
ENST00000353578.8:c.7772T=	ENSP00000315873.4:p.Leu2591=
ENST00000409809.5:c.7772T=	ENSP00000386844.1:p.Leu2591=
ENST00000468792.1:n.77T=
ENST00000472056.5:c.6569T=	ENSP00000418285.1:p.Leu2190=
ENST00000491769.1:n.4832T=
NM_004369.3:c.8390T= , LRG_473t1:c.8390T=	NP_004360.2:p.Leu2797=
NM_057166.4:c.6569T=	NP_476507.3:p.Leu2190=
NM_057167.3:c.7772T=	NP_476508.2:p.Leu2591=
XM_005246065.1:c.7790T=	XP_005246122.1:p.Leu2597=
XM_005246066.1:c.7169T=	XP_005246123.1:p.Leu2390=
XM_006712253.1:c.7889T=	XP_006712316.1:p.Leu2630=
XM_011510574.1:c.8387T=	XP_011508876.1:p.Leu2796=
XM_011510575.1:c.5984T=	XP_011508877.1:p.Leu1995=
XM_017003304.1:c.5984T=	XP_016858793.1:p.Leu1995=
XM_024452684.1:c.7169T=	XP_024308452.1:p.Leu2390=
NM_004369.4:c.8390T= MANE Select	NP_004360.2:p.Leu2797=
NM_057166.5:c.6569T=	NP_476507.3:p.Leu2190=
NM_057167.4:c.7772T=	NP_476508.2:p.Leu2591=