Canonical Allele Identifier: CA351188418

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334727C>A , CM000664.2:g.237334727C>A	GRCh38
NC_000002.11:g.238243370C>A , CM000664.1:g.238243370C>A	GRCh37
NC_000002.10:g.237908109C>A	NCBI36
NG_008676.1:g.84481G>T , LRG_473:g.84481G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9128G>T MANE Select	NP_004360.2:p.Arg3043Leu
ENST00000295550.9:c.9128G>T MANE Select	ENSP00000295550.4:p.Arg3043Leu
NM_004369.3:c.9128G>T , LRG_473t1:c.9128G>T	NP_004360.2:p.Arg3043Leu
NM_057166.4:c.7307G>T	NP_476507.3:p.Arg2436Leu
NM_057166.5:c.7307G>T	NP_476507.3:p.Arg2436Leu
NM_057167.3:c.8510G>T	NP_476508.2:p.Arg2837Leu
NM_057167.4:c.8510G>T	NP_476508.2:p.Arg2837Leu
ENST00000295550.8:c.9128G>T	ENSP00000295550.4:p.Arg3043Leu
ENST00000347401.7:c.7304G>T	ENSP00000315609.4:p.Arg2435Leu
ENST00000347401.8:c.1611-1179G>T
ENST00000353578.8:c.8510G>T	ENSP00000315873.4:p.Arg2837Leu
ENST00000353578.9:c.8510G>T	ENSP00000315873.4:p.Arg2837Leu
ENST00000409809.5:c.8510G>T	ENSP00000386844.1:p.Arg2837Leu
ENST00000472056.5:c.7307G>T	ENSP00000418285.1:p.Arg2436Leu
ENST00000491769.1:n.5570G>T
ENST00000493608.1:n.60G>T
ENST00000682957.1:c.1255G>T
XM_005246065.1:c.8528G>T	XP_005246122.1:p.Arg2843Leu
XM_005246066.1:c.7907G>T	XP_005246123.1:p.Arg2636Leu
XM_006712253.1:c.8627G>T	XP_006712316.1:p.Arg2876Leu
XM_011510574.1:c.9125G>T	XP_011508876.1:p.Arg3042Leu
XM_011510575.1:c.6722G>T	XP_011508877.1:p.Arg2241Leu
XM_017003304.1:c.6722G>T	XP_016858793.1:p.Arg2241Leu
XM_024452684.1:c.7907G>T	XP_024308452.1:p.Arg2636Leu