Canonical Allele Identifier: CA369847730

Gene: AOC1

Linked Data

• gnomAD v4: 7-150857419-G-T
• MyVariant Identifiers: chr7:g.150554507G>T (hg19) ; chr7:g.150857419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857419G>T , CM000669.2:g.150857419G>T	GRCh38
NC_000007.13:g.150554507G>T , CM000669.1:g.150554507G>T	GRCh37
NC_000007.12:g.150185440G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.949G>T MANE Select	ENSP00000354193.4:p.Val317Leu
ENST00000360937.8:c.949G>T	ENSP00000354193.4:p.Val317Leu
ENST00000416793.6:c.949G>T	ENSP00000411613.2:p.Val317Leu
ENST00000467291.5:c.949G>T	ENSP00000418328.1:p.Val317Leu
ENST00000483043.1:c.949G>T	ENSP00000417392.1:p.Val317Leu
ENST00000493429.5:c.949G>T	ENSP00000418614.1:p.Val317Leu
ENST00000619575.1:c.947G>T	ENSP00000481717.1:p.Cys316Phe
ENST00000622116.4:c.-474G>T	ENSP00000481520.1:n.-474G>T
NM_001091.3:c.949G>T	NP_001082.2:p.Val317Leu
NM_001272072.1:c.949G>T	NP_001259001.1:p.Val317Leu
XM_011516008.1:c.949G>T	XP_011514310.1:p.Val317Leu
XM_011516009.1:c.949G>T	XP_011514311.1:p.Val317Leu
XR_928169.1:n.296-15974C>A
XR_928170.1:n.425+11197C>A
XR_928171.1:n.298-15974C>A
XM_017011944.1:c.949G>T	XP_016867433.1:p.Val317Leu
XM_017011945.1:c.949G>T	XP_016867434.1:p.Val317Leu
XM_017011946.2:c.949G>T	XP_016867435.1:p.Val317Leu
XM_017011947.1:c.949G>T	XP_016867436.1:p.Val317Leu
XR_928169.2:n.302-15974C>A
XR_928171.2:n.302-15974C>A
NM_001091.4:c.949G>T MANE Select	NP_001082.2:p.Val317Leu
NM_001272072.2:c.949G>T	NP_001259001.1:p.Val317Leu