Canonical Allele Identifier: CA369849450

Gene: AOC1

Linked Data

• MyVariant Identifiers: chr7:g.150556019C>A (hg19) ; chr7:g.150858931C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150858931C>A , CM000669.2:g.150858931C>A	GRCh38
NC_000007.13:g.150556019C>A , CM000669.1:g.150556019C>A	GRCh37
NC_000007.12:g.150186952C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.1739C>A MANE Select	ENSP00000354193.4:p.Thr580Asn
ENST00000360937.8:c.1739C>A	ENSP00000354193.4:p.Thr580Asn
ENST00000416793.6:c.1739C>A	ENSP00000411613.2:p.Thr580Asn
ENST00000467291.5:c.1739C>A	ENSP00000418328.1:p.Thr580Asn
ENST00000480582.1:n.277C>A
ENST00000493429.5:c.1739C>A	ENSP00000418614.1:p.Thr580Asn
ENST00000619575.1:c.1733C>A	ENSP00000481717.1:p.Thr578Asn
ENST00000622116.4:c.317C>A	ENSP00000481520.1:p.Thr106Asn
NM_001091.3:c.1739C>A	NP_001082.2:p.Thr580Asn
NM_001272072.1:c.1739C>A	NP_001259001.1:p.Thr580Asn
XM_011516008.1:c.1739C>A	XP_011514310.1:p.Thr580Asn
XM_011516009.1:c.1739C>A	XP_011514311.1:p.Thr580Asn
XR_928169.1:n.296-17486G>T
XR_928170.1:n.425+9685G>T
XR_928171.1:n.298-17486G>T
XM_017011944.1:c.1739C>A	XP_016867433.1:p.Thr580Asn
XM_017011945.1:c.1739C>A	XP_016867434.1:p.Thr580Asn
XM_017011946.2:c.1739C>A	XP_016867435.1:p.Thr580Asn
XM_017011947.1:c.1739C>A	XP_016867436.1:p.Thr580Asn
XR_928169.2:n.302-17486G>T
XR_928171.2:n.302-17486G>T
NM_001091.4:c.1739C>A MANE Select	NP_001082.2:p.Thr580Asn
NM_001272072.2:c.1739C>A	NP_001259001.1:p.Thr580Asn