Canonical Allele Identifier: CA2187640

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340893C>T , CM000664.2:g.237340893C>T	GRCh38
NC_000002.11:g.238249536C>T , CM000664.1:g.238249536C>T	GRCh37
NC_000002.10:g.237914275C>T	NCBI36
NG_008676.1:g.78315G>A , LRG_473:g.78315G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8023G>A MANE Select	NP_004360.2:p.Val2675Met
ENST00000295550.9:c.8023G>A MANE Select	ENSP00000295550.4:p.Val2675Met
NM_004369.3:c.8023G>A , LRG_473t1:c.8023G>A	NP_004360.2:p.Val2675Met
NM_057166.4:c.6202G>A	NP_476507.3:p.Val2068Met
NM_057166.5:c.6202G>A	NP_476507.3:p.Val2068Met
NM_057167.3:c.7405G>A	NP_476508.2:p.Val2469Met
NM_057167.4:c.7405G>A	NP_476508.2:p.Val2469Met
ENST00000295550.8:c.8023G>A	ENSP00000295550.4:p.Val2675Met
ENST00000347401.7:c.6199G>A	ENSP00000315609.4:p.Val2067Met
ENST00000347401.8:c.668G>A
ENST00000353578.8:c.7405G>A	ENSP00000315873.4:p.Val2469Met
ENST00000353578.9:c.7405G>A	ENSP00000315873.4:p.Val2469Met
ENST00000409809.5:c.7405G>A	ENSP00000386844.1:p.Val2469Met
ENST00000472056.5:c.6202G>A	ENSP00000418285.1:p.Val2068Met
ENST00000491769.1:n.4465G>A
ENST00000682957.1:c.26G>A
ENST00000684508.1:n.290G>A
XM_005246065.1:c.7423G>A	XP_005246122.1:p.Val2475Met
XM_005246066.1:c.6802G>A	XP_005246123.1:p.Val2268Met
XM_006712253.1:c.7522G>A	XP_006712316.1:p.Val2508Met
XM_011510574.1:c.8020G>A	XP_011508876.1:p.Val2674Met
XM_011510575.1:c.5617G>A	XP_011508877.1:p.Val1873Met
XM_017003304.1:c.5617G>A	XP_016858793.1:p.Val1873Met
XM_024452684.1:c.6802G>A	XP_024308452.1:p.Val2268Met