Canonical Allele Identifier: CA2613553

Gene: COL6A6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130661756A>G , CM000665.2:g.130661756A>G	GRCh38
NC_000003.11:g.130380600A>G , CM000665.1:g.130380600A>G	GRCh37
NC_000003.10:g.131863290A>G	NCBI36
NG_054914.1:g.150048A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001102608.3:c.5950A>G MANE Select	NP_001096078.1:p.Ile1984Val
ENST00000358511.11:c.5950A>G MANE Select	ENSP00000351310.6:p.Ile1984Val
NM_001102608.1:c.5950A>G	NP_001096078.1:p.Ile1984Val
NM_001102608.2:c.5950A>G	NP_001096078.1:p.Ile1984Val
ENST00000358511.10:c.5950A>G	ENSP00000351310.6:p.Ile1984Val
ENST00000506143.5:c.1864A>G
XM_005247121.3:c.5950A>G	XP_005247178.1:p.Ile1984Val
XM_005247121.5:c.5950A>G	XP_005247178.1:p.Ile1984Val
XM_011512423.1:c.5998A>G	XP_011510725.1:p.Ile2000Val
XM_011512423.3:c.5998A>G	XP_011510725.1:p.Ile2000Val
XM_011512424.1:c.5998A>G	XP_011510726.1:p.Ile2000Val
XM_011512424.2:c.5998A>G	XP_011510726.1:p.Ile2000Val
XM_011512425.1:c.5950A>G	XP_011510727.1:p.Ile1984Val
XM_011512425.3:c.5950A>G	XP_011510727.1:p.Ile1984Val
XM_011512426.1:c.5950A>G	XP_011510728.1:p.Ile1984Val
XM_011512426.3:c.5950A>G	XP_011510728.1:p.Ile1984Val
XM_011512427.1:c.5950A>G	XP_011510729.1:p.Ile1984Val
XM_011512428.1:c.5950A>G	XP_011510730.1:p.Ile1984Val
XM_011512428.3:c.5950A>G	XP_011510730.1:p.Ile1984Val
XM_011512429.1:c.5901A>G	XP_011510731.1:p.Thr1967=
XM_017005711.2:c.5950A>G	XP_016861200.1:p.Ile1984Val
XM_017005712.2:c.5950A>G	XP_016861201.1:p.Ile1984Val
XM_017005713.2:c.5950A>G	XP_016861202.1:p.Ile1984Val
XM_017005714.2:c.5950A>G	XP_016861203.1:p.Ile1984Val
XM_017005715.2:c.5950A>G	XP_016861204.1:p.Ile1984Val
XR_924103.1:n.6199A>G
XR_924103.2:n.6205A>G