Canonical Allele Identifier: CA2612984

Gene: COL6A6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130598428C>A , CM000665.2:g.130598428C>A	GRCh38
NC_000003.11:g.130317272C>A , CM000665.1:g.130317272C>A	GRCh37
NC_000003.10:g.131799962C>A	NCBI36
NG_054914.1:g.86720C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001102608.3:c.4597C>A MANE Select	NP_001096078.1:p.Gln1533Lys
ENST00000358511.11:c.4597C>A MANE Select	ENSP00000351310.6:p.Gln1533Lys
NM_001102608.1:c.4597C>A	NP_001096078.1:p.Gln1533Lys
NM_001102608.2:c.4597C>A	NP_001096078.1:p.Gln1533Lys
ENST00000358511.10:c.4597C>A	ENSP00000351310.6:p.Gln1533Lys
ENST00000506143.5:c.1005C>A
XM_005247121.3:c.4597C>A	XP_005247178.1:p.Gln1533Lys
XM_005247121.5:c.4597C>A	XP_005247178.1:p.Gln1533Lys
XM_011512423.1:c.4645C>A	XP_011510725.1:p.Gln1549Lys
XM_011512423.3:c.4645C>A	XP_011510725.1:p.Gln1549Lys
XM_011512424.1:c.4645C>A	XP_011510726.1:p.Gln1549Lys
XM_011512424.2:c.4645C>A	XP_011510726.1:p.Gln1549Lys
XM_011512425.1:c.4597C>A	XP_011510727.1:p.Gln1533Lys
XM_011512425.3:c.4597C>A	XP_011510727.1:p.Gln1533Lys
XM_011512426.1:c.4597C>A	XP_011510728.1:p.Gln1533Lys
XM_011512426.3:c.4597C>A	XP_011510728.1:p.Gln1533Lys
XM_011512427.1:c.4597C>A	XP_011510729.1:p.Gln1533Lys
XM_011512428.1:c.4597C>A	XP_011510730.1:p.Gln1533Lys
XM_011512428.3:c.4597C>A	XP_011510730.1:p.Gln1533Lys
XM_011512429.1:c.4645C>A	XP_011510731.1:p.Gln1549Lys
XM_011512430.1:c.4645C>A	XP_011510732.1:p.Gln1549Lys
XM_011512431.1:c.4645C>A	XP_011510733.1:p.Gln1549Lys
XM_011512431.2:c.4645C>A	XP_011510733.1:p.Gln1549Lys
XM_011512432.1:c.4645C>A	XP_011510734.1:p.Gln1549Lys
XM_011512432.2:c.4645C>A	XP_011510734.1:p.Gln1549Lys
XM_017005711.2:c.4597C>A	XP_016861200.1:p.Gln1533Lys
XM_017005712.2:c.4597C>A	XP_016861201.1:p.Gln1533Lys
XM_017005713.2:c.4597C>A	XP_016861202.1:p.Gln1533Lys
XM_017005714.2:c.4597C>A	XP_016861203.1:p.Gln1533Lys
XM_017005715.2:c.4597C>A	XP_016861204.1:p.Gln1533Lys
XM_017005716.1:c.4645C>A	XP_016861205.1:p.Gln1549Lys
XR_924103.1:n.4846C>A
XR_924103.2:n.4852C>A