Canonical Allele Identifier: CA2612552

Gene: COL6A6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130574114G>A , CM000665.2:g.130574114G>A	GRCh38
NC_000003.11:g.130292958G>A , CM000665.1:g.130292958G>A	GRCh37
NC_000003.10:g.131775648G>A	NCBI36
NG_054914.1:g.62406G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001102608.3:c.3136G>A MANE Select	NP_001096078.1:p.Asp1046Asn
ENST00000358511.11:c.3136G>A MANE Select	ENSP00000351310.6:p.Asp1046Asn
NM_001102608.1:c.3136G>A	NP_001096078.1:p.Asp1046Asn
NM_001102608.2:c.3136G>A	NP_001096078.1:p.Asp1046Asn
ENST00000358511.10:c.3136G>A	ENSP00000351310.6:p.Asp1046Asn
XM_005247121.3:c.3136G>A	XP_005247178.1:p.Asp1046Asn
XM_005247121.5:c.3136G>A	XP_005247178.1:p.Asp1046Asn
XM_011512423.1:c.3184G>A	XP_011510725.1:p.Asp1062Asn
XM_011512423.3:c.3184G>A	XP_011510725.1:p.Asp1062Asn
XM_011512424.1:c.3184G>A	XP_011510726.1:p.Asp1062Asn
XM_011512424.2:c.3184G>A	XP_011510726.1:p.Asp1062Asn
XM_011512425.1:c.3136G>A	XP_011510727.1:p.Asp1046Asn
XM_011512425.3:c.3136G>A	XP_011510727.1:p.Asp1046Asn
XM_011512426.1:c.3136G>A	XP_011510728.1:p.Asp1046Asn
XM_011512426.3:c.3136G>A	XP_011510728.1:p.Asp1046Asn
XM_011512427.1:c.3136G>A	XP_011510729.1:p.Asp1046Asn
XM_011512428.1:c.3136G>A	XP_011510730.1:p.Asp1046Asn
XM_011512428.3:c.3136G>A	XP_011510730.1:p.Asp1046Asn
XM_011512429.1:c.3184G>A	XP_011510731.1:p.Asp1062Asn
XM_011512430.1:c.3184G>A	XP_011510732.1:p.Asp1062Asn
XM_011512431.1:c.3184G>A	XP_011510733.1:p.Asp1062Asn
XM_011512431.2:c.3184G>A	XP_011510733.1:p.Asp1062Asn
XM_011512432.1:c.3184G>A	XP_011510734.1:p.Asp1062Asn
XM_011512432.2:c.3184G>A	XP_011510734.1:p.Asp1062Asn
XM_011512433.1:c.3184G>A	XP_011510735.1:p.Asp1062Asn
XM_017005711.2:c.3136G>A	XP_016861200.1:p.Asp1046Asn
XM_017005712.2:c.3136G>A	XP_016861201.1:p.Asp1046Asn
XM_017005713.2:c.3136G>A	XP_016861202.1:p.Asp1046Asn
XM_017005714.2:c.3136G>A	XP_016861203.1:p.Asp1046Asn
XM_017005715.2:c.3136G>A	XP_016861204.1:p.Asp1046Asn
XM_017005716.1:c.3184G>A	XP_016861205.1:p.Asp1062Asn
XR_924103.1:n.3385G>A
XR_924103.2:n.3391G>A