Canonical Allele Identifier: CA2187901

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237345062T>C , CM000664.2:g.237345062T>C	GRCh38
NC_000002.11:g.238253705T>C , CM000664.1:g.238253705T>C	GRCh37
NC_000002.10:g.237918444T>C	NCBI36
NG_008676.1:g.74146A>G , LRG_473:g.74146A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7158A>G MANE Select	NP_004360.2:p.Lys2386=
ENST00000295550.9:c.7158A>G MANE Select	ENSP00000295550.4:p.Lys2386=
NM_004369.3:c.7158A>G , LRG_473t1:c.7158A>G	NP_004360.2:p.Lys2386=
NM_057166.4:c.5337A>G	NP_476507.3:p.Lys1779=
NM_057166.5:c.5337A>G	NP_476507.3:p.Lys1779=
NM_057167.3:c.6540A>G	NP_476508.2:p.Lys2180=
NM_057167.4:c.6540A>G	NP_476508.2:p.Lys2180=
ENST00000295550.8:c.7158A>G	ENSP00000295550.4:p.Lys2386=
ENST00000347401.7:c.5337A>G	ENSP00000315609.4:p.Lys1779=
ENST00000353578.8:c.6540A>G	ENSP00000315873.4:p.Lys2180=
ENST00000353578.9:c.6540A>G	ENSP00000315873.4:p.Lys2180=
ENST00000409809.5:c.6540A>G	ENSP00000386844.1:p.Lys2180=
ENST00000472056.5:c.5337A>G	ENSP00000418285.1:p.Lys1779=
ENST00000491769.1:n.1412A>G
XM_005246065.1:c.6558A>G	XP_005246122.1:p.Lys2186=
XM_005246066.1:c.5937A>G	XP_005246123.1:p.Lys1979=
XM_006712253.1:c.6657A>G	XP_006712316.1:p.Lys2219=
XM_011510574.1:c.7155A>G	XP_011508876.1:p.Lys2385=
XM_011510575.1:c.4752A>G	XP_011508877.1:p.Lys1584=
XM_017003304.1:c.4752A>G	XP_016858793.1:p.Lys1584=
XM_024452684.1:c.5937A>G	XP_024308452.1:p.Lys1979=