Canonical Allele Identifier: CA369849248

Gene: AOC1

Linked Data

• dbSNP Id: rs146188230
• gnomAD v2: 7-150555922-C-G
• gnomAD v3: 7-150858834-C-G
• gnomAD v4: 7-150858834-C-G
• MyVariant Identifiers: chr7:g.150555922C>G (hg19) ; chr7:g.150858834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150858834C>G , CM000669.2:g.150858834C>G	GRCh38
NC_000007.13:g.150555922C>G , CM000669.1:g.150555922C>G	GRCh37
NC_000007.12:g.150186855C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.1642C>G MANE Select	ENSP00000354193.4:p.Arg548Gly
ENST00000360937.8:c.1642C>G	ENSP00000354193.4:p.Arg548Gly
ENST00000416793.6:c.1642C>G	ENSP00000411613.2:p.Arg548Gly
ENST00000467291.5:c.1642C>G	ENSP00000418328.1:p.Arg548Gly
ENST00000480582.1:n.180C>G
ENST00000493429.5:c.1642C>G	ENSP00000418614.1:p.Arg548Gly
ENST00000619575.1:c.1636C>G	ENSP00000481717.1:p.Arg546Gly
ENST00000622116.4:c.220C>G	ENSP00000481520.1:p.Arg74Gly
NM_001091.3:c.1642C>G	NP_001082.2:p.Arg548Gly
NM_001272072.1:c.1642C>G	NP_001259001.1:p.Arg548Gly
XM_011516008.1:c.1642C>G	XP_011514310.1:p.Arg548Gly
XM_011516009.1:c.1642C>G	XP_011514311.1:p.Arg548Gly
XR_928169.1:n.296-17389G>C
XR_928170.1:n.425+9782G>C
XR_928171.1:n.298-17389G>C
XM_017011944.1:c.1642C>G	XP_016867433.1:p.Arg548Gly
XM_017011945.1:c.1642C>G	XP_016867434.1:p.Arg548Gly
XM_017011946.2:c.1642C>G	XP_016867435.1:p.Arg548Gly
XM_017011947.1:c.1642C>G	XP_016867436.1:p.Arg548Gly
XR_928169.2:n.302-17389G>C
XR_928171.2:n.302-17389G>C
NM_001091.4:c.1642C>G MANE Select	NP_001082.2:p.Arg548Gly
NM_001272072.2:c.1642C>G	NP_001259001.1:p.Arg548Gly