Canonical Allele Identifier: CA351187838

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275563A>T (hg19) ; chr2:g.237366920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366920A>T , CM000664.2:g.237366920A>T	GRCh38
NC_000002.11:g.238275563A>T , CM000664.1:g.238275563A>T	GRCh37
NC_000002.10:g.237940302A>T	NCBI36
NG_008676.1:g.52288T>A , LRG_473:g.52288T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.4649T>A	ENSP00000315873.4:p.Val1550Glu
ENST00000295550.9:c.5267T>A MANE Select	ENSP00000295550.4:p.Val1756Glu
ENST00000295550.8:c.5267T>A	ENSP00000295550.4:p.Val1756Glu
ENST00000347401.7:c.3446T>A	ENSP00000315609.4:p.Val1149Glu
ENST00000353578.8:c.4649T>A	ENSP00000315873.4:p.Val1550Glu
ENST00000409809.5:c.4649T>A	ENSP00000386844.1:p.Val1550Glu
ENST00000472056.5:c.3446T>A	ENSP00000418285.1:p.Val1149Glu
NM_004369.3:c.5267T>A , LRG_473t1:c.5267T>A	NP_004360.2:p.Val1756Glu
NM_057166.4:c.3446T>A	NP_476507.3:p.Val1149Glu
NM_057167.3:c.4649T>A	NP_476508.2:p.Val1550Glu
XM_005246065.1:c.4667T>A	XP_005246122.1:p.Val1556Glu
XM_005246066.1:c.4046T>A	XP_005246123.1:p.Val1349Glu
XM_006712253.1:c.4766T>A	XP_006712316.1:p.Val1589Glu
XM_011510574.1:c.5264T>A	XP_011508876.1:p.Val1755Glu
XM_011510575.1:c.2861T>A	XP_011508877.1:p.Val954Glu
XM_017003304.1:c.2861T>A	XP_016858793.1:p.Val954Glu
XM_024452684.1:c.4046T>A	XP_024308452.1:p.Val1349Glu
NM_004369.4:c.5267T>A MANE Select	NP_004360.2:p.Val1756Glu
NM_057166.5:c.3446T>A	NP_476507.3:p.Val1149Glu
NM_057167.4:c.4649T>A	NP_476508.2:p.Val1550Glu