Canonical Allele Identifier: CA369850660

Gene: AOC1

Linked Data

• MyVariant Identifiers: chr7:g.150558248G>T (hg19) ; chr7:g.150861160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861160G>T , CM000669.2:g.150861160G>T	GRCh38
NC_000007.13:g.150558248G>T , CM000669.1:g.150558248G>T	GRCh37
NC_000007.12:g.150189181G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.2207G>T MANE Select	ENSP00000354193.4:p.Cys736Phe
ENST00000360937.8:c.2207G>T	ENSP00000354193.4:p.Cys736Phe
ENST00000416793.6:c.2264G>T	ENSP00000411613.2:p.Cys755Phe
ENST00000467291.5:c.2207G>T	ENSP00000418328.1:p.Cys736Phe
ENST00000480582.1:n.884G>T
ENST00000493429.5:c.2207G>T	ENSP00000418614.1:p.Cys736Phe
ENST00000619575.1:c.*64G>T	ENSP00000481717.1:n.*64G>T
ENST00000622116.4:c.*199G>T	ENSP00000481520.1:n.*199G>T
NM_001091.3:c.2207G>T	NP_001082.2:p.Cys736Phe
NM_001272072.1:c.2264G>T	NP_001259001.1:p.Cys755Phe
XM_011516008.1:c.2264G>T	XP_011514310.1:p.Cys755Phe
XM_011516009.1:c.2207G>T	XP_011514311.1:p.Cys736Phe
XR_928169.1:n.295+15849C>A
XR_928170.1:n.425+7456C>A
XR_928171.1:n.297+15849C>A
XM_017011944.1:c.2264G>T	XP_016867433.1:p.Cys755Phe
XM_017011945.1:c.2264G>T	XP_016867434.1:p.Cys755Phe
XM_017011946.2:c.2264G>T	XP_016867435.1:p.Cys755Phe
XM_017011947.1:c.2207G>T	XP_016867436.1:p.Cys736Phe
XR_928169.2:n.301+15849C>A
XR_928171.2:n.301+15849C>A
NM_001091.4:c.2207G>T MANE Select	NP_001082.2:p.Cys736Phe
NM_001272072.2:c.2264G>T	NP_001259001.1:p.Cys755Phe