Canonical Allele Identifier: CA369850681

Gene: AOC1

Linked Data

• MyVariant Identifiers: chr7:g.150558257C>T (hg19) ; chr7:g.150861169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861169C>T , CM000669.2:g.150861169C>T	GRCh38
NC_000007.13:g.150558257C>T , CM000669.1:g.150558257C>T	GRCh37
NC_000007.12:g.150189190C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2216C>T MANE Select	ENSP00000354193.4:p.Pro739Leu
ENST00000360937.8:c.2216C>T	ENSP00000354193.4:p.Pro739Leu
ENST00000416793.6:c.2273C>T	ENSP00000411613.2:p.Pro758Leu
ENST00000467291.5:c.2216C>T	ENSP00000418328.1:p.Pro739Leu
ENST00000480582.1:n.893C>T
ENST00000493429.5:c.2216C>T	ENSP00000418614.1:p.Pro739Leu
ENST00000619575.1:c.*73C>T	ENSP00000481717.1:n.*73C>T
ENST00000622116.4:c.*208C>T	ENSP00000481520.1:n.*208C>T
NM_001091.3:c.2216C>T	NP_001082.2:p.Pro739Leu
NM_001272072.1:c.2273C>T	NP_001259001.1:p.Pro758Leu
XM_011516008.1:c.2273C>T	XP_011514310.1:p.Pro758Leu
XM_011516009.1:c.2216C>T	XP_011514311.1:p.Pro739Leu
XR_928169.1:n.295+15840G>A
XR_928170.1:n.425+7447G>A
XR_928171.1:n.297+15840G>A
XM_017011944.1:c.2273C>T	XP_016867433.1:p.Pro758Leu
XM_017011945.1:c.2273C>T	XP_016867434.1:p.Pro758Leu
XM_017011946.2:c.2273C>T	XP_016867435.1:p.Pro758Leu
XM_017011947.1:c.2216C>T	XP_016867436.1:p.Pro739Leu
XR_928169.2:n.301+15840G>A
XR_928171.2:n.301+15840G>A
NM_001091.4:c.2216C>T MANE Select	NP_001082.2:p.Pro739Leu
NM_001272072.2:c.2273C>T	NP_001259001.1:p.Pro758Leu