Canonical Allele Identifier: CA1337623167

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371827A= , CM000664.2:g.237371827A=	GRCh38
NC_000002.11:g.238280470A= , CM000664.1:g.238280470A=	GRCh37
NC_000002.10:g.237945209A=	NCBI36
NG_008676.1:g.47381T= , LRG_473:g.47381T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3572T=	ENSP00000315873.4:p.Leu1191=
ENST00000684597.1:c.21T=
ENST00000295550.9:c.4190T= MANE Select	ENSP00000295550.4:p.Leu1397=
ENST00000295550.8:c.4190T=	ENSP00000295550.4:p.Leu1397=
ENST00000347401.7:c.2369T=	ENSP00000315609.4:p.Leu790=
ENST00000353578.8:c.3572T=	ENSP00000315873.4:p.Leu1191=
ENST00000392003.6:c.2969T=	ENSP00000375860.2:p.Leu990=
ENST00000392004.7:c.3572T=	ENSP00000375861.3:p.Leu1191=
ENST00000409809.5:c.3572T=	ENSP00000386844.1:p.Leu1191=
ENST00000472056.5:c.2369T=	ENSP00000418285.1:p.Leu790=
NM_004369.3:c.4190T= , LRG_473t1:c.4190T=	NP_004360.2:p.Leu1397=
NM_057164.4:c.2969T=	NP_476505.3:p.Leu990=
NM_057165.4:c.3572T=	NP_476506.3:p.Leu1191=
NM_057166.4:c.2369T=	NP_476507.3:p.Leu790=
NM_057167.3:c.3572T=	NP_476508.2:p.Leu1191=
XM_005246065.1:c.3590T=	XP_005246122.1:p.Leu1197=
XM_005246066.1:c.2969T=	XP_005246123.1:p.Leu990=
XM_006712253.1:c.4190T=	XP_006712316.1:p.Leu1397=
XM_011510574.1:c.4190T=	XP_011508876.1:p.Leu1397=
XM_011510575.1:c.1784T=	XP_011508877.1:p.Leu595=
XM_017003304.1:c.1784T=	XP_016858793.1:p.Leu595=
XM_024452684.1:c.2969T=	XP_024308452.1:p.Leu990=
NM_004369.4:c.4190T= MANE Select	NP_004360.2:p.Leu1397=
NM_057164.5:c.2969T=	NP_476505.3:p.Leu990=
NM_057165.5:c.3572T=	NP_476506.3:p.Leu1191=
NM_057166.5:c.2369T=	NP_476507.3:p.Leu790=
NM_057167.4:c.3572T=	NP_476508.2:p.Leu1191=