Canonical Allele Identifier: CA2716180116

Gene: AOC1

Linked Data

• dbSNP Id: rs2116849708

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861172_150861173insA , CM000669.2:g.150861172_150861173insA	GRCh38
NC_000007.13:g.150558260_150558261insA , CM000669.1:g.150558260_150558261insA	GRCh37
NC_000007.12:g.150189193_150189194insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2219_2220insA MANE Select	ENSP00000354193.4:p.Ser743Ter
ENST00000360937.8:c.2219_2220insA	ENSP00000354193.4:p.Ser743Ter
ENST00000416793.6:c.2276_2277insA	ENSP00000411613.2:p.Ser762Ter
ENST00000467291.5:c.2219_2220insA	ENSP00000418328.1:p.Ser743Ter
ENST00000480582.1:n.896_897insA
ENST00000493429.5:c.2219_2220insA	ENSP00000418614.1:p.Ser743Ter
ENST00000619575.1:c.*76_*77insA	ENSP00000481717.1:n.*76_*77insA
ENST00000622116.4:c.*211_*212insA	ENSP00000481520.1:n.*211_*212insA
NM_001091.3:c.2219_2220insA	NP_001082.2:p.Ser743Ter
NM_001272072.1:c.2276_2277insA	NP_001259001.1:p.Ser762Ter
XM_011516008.1:c.2276_2277insA	XP_011514310.1:p.Ser762Ter
XM_011516009.1:c.2219_2220insA	XP_011514311.1:p.Ser743Ter
XR_928169.1:n.295+15836_295+15837insT
XR_928170.1:n.425+7443_425+7444insT
XR_928171.1:n.297+15836_297+15837insT
XM_017011944.1:c.2276_2277insA	XP_016867433.1:p.Ser762Ter
XM_017011945.1:c.2276_2277insA	XP_016867434.1:p.Ser762Ter
XM_017011946.2:c.2276_2277insA	XP_016867435.1:p.Ser762Ter
XM_017011947.1:c.2219_2220insA	XP_016867436.1:p.Ser743Ter
XR_928169.2:n.301+15836_301+15837insT
XR_928171.2:n.301+15836_301+15837insT
NM_001091.4:c.2219_2220insA MANE Select	NP_001082.2:p.Ser743Ter
NM_001272072.2:c.2276_2277insA	NP_001259001.1:p.Ser762Ter