Canonical Allele Identifier: CA1337607075

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336202C= , CM000664.2:g.237336202C=	GRCh38
NC_000002.11:g.238244845C= , CM000664.1:g.238244845C=	GRCh37
NC_000002.10:g.237909584C=	NCBI36
NG_008676.1:g.83006G= , LRG_473:g.83006G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1543G=
ENST00000353578.9:c.8280G=	ENSP00000315873.4:p.Lys2760=
ENST00000682957.1:c.1025G=
ENST00000684508.1:n.1165G=
ENST00000295550.9:c.8898G= MANE Select	ENSP00000295550.4:p.Lys2966=
ENST00000295550.8:c.8898G=	ENSP00000295550.4:p.Lys2966=
ENST00000347401.7:c.7074G=	ENSP00000315609.4:p.Lys2358=
ENST00000353578.8:c.8280G=	ENSP00000315873.4:p.Lys2760=
ENST00000409809.5:c.8280G=	ENSP00000386844.1:p.Lys2760=
ENST00000472056.5:c.7077G=	ENSP00000418285.1:p.Lys2359=
ENST00000491769.1:n.5340G=
NM_004369.3:c.8898G= , LRG_473t1:c.8898G=	NP_004360.2:p.Lys2966=
NM_057166.4:c.7077G=	NP_476507.3:p.Lys2359=
NM_057167.3:c.8280G=	NP_476508.2:p.Lys2760=
XM_005246065.1:c.8298G=	XP_005246122.1:p.Lys2766=
XM_005246066.1:c.7677G=	XP_005246123.1:p.Lys2559=
XM_006712253.1:c.8397G=	XP_006712316.1:p.Lys2799=
XM_011510574.1:c.8895G=	XP_011508876.1:p.Lys2965=
XM_011510575.1:c.6492G=	XP_011508877.1:p.Lys2164=
XM_017003304.1:c.6492G=	XP_016858793.1:p.Lys2164=
XM_024452684.1:c.7677G=	XP_024308452.1:p.Lys2559=
NM_004369.4:c.8898G= MANE Select	NP_004360.2:p.Lys2966=
NM_057166.5:c.7077G=	NP_476507.3:p.Lys2359=
NM_057167.4:c.8280G=	NP_476508.2:p.Lys2760=