Canonical Allele Identifier: CA2187494

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336516C>T , CM000664.2:g.237336516C>T	GRCh38
NC_000002.11:g.238245159C>T , CM000664.1:g.238245159C>T	GRCh37
NC_000002.10:g.237909898C>T	NCBI36
NG_008676.1:g.82692G>A , LRG_473:g.82692G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8584G>A MANE Select	NP_004360.2:p.Val2862Ile
ENST00000295550.9:c.8584G>A MANE Select	ENSP00000295550.4:p.Val2862Ile
NM_004369.3:c.8584G>A , LRG_473t1:c.8584G>A	NP_004360.2:p.Val2862Ile
NM_057166.4:c.6763G>A	NP_476507.3:p.Val2255Ile
NM_057166.5:c.6763G>A	NP_476507.3:p.Val2255Ile
NM_057167.3:c.7966G>A	NP_476508.2:p.Val2656Ile
NM_057167.4:c.7966G>A	NP_476508.2:p.Val2656Ile
ENST00000295550.8:c.8584G>A	ENSP00000295550.4:p.Val2862Ile
ENST00000347401.7:c.6760G>A	ENSP00000315609.4:p.Val2254Ile
ENST00000347401.8:c.1229G>A
ENST00000353578.8:c.7966G>A	ENSP00000315873.4:p.Val2656Ile
ENST00000353578.9:c.7966G>A	ENSP00000315873.4:p.Val2656Ile
ENST00000409809.5:c.7966G>A	ENSP00000386844.1:p.Val2656Ile
ENST00000472056.5:c.6763G>A	ENSP00000418285.1:p.Val2255Ile
ENST00000491769.1:n.5026G>A
ENST00000682957.1:c.711G>A
ENST00000684508.1:n.851G>A
XM_005246065.1:c.7984G>A	XP_005246122.1:p.Val2662Ile
XM_005246066.1:c.7363G>A	XP_005246123.1:p.Val2455Ile
XM_006712253.1:c.8083G>A	XP_006712316.1:p.Val2695Ile
XM_011510574.1:c.8581G>A	XP_011508876.1:p.Val2861Ile
XM_011510575.1:c.6178G>A	XP_011508877.1:p.Val2060Ile
XM_017003304.1:c.6178G>A	XP_016858793.1:p.Val2060Ile
XM_024452684.1:c.7363G>A	XP_024308452.1:p.Val2455Ile