Canonical Allele Identifier: CA4340752

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs761835242
• ExAC: 7:92118627 G / A
• gnomAD v2: 7-92118627-G-A
• gnomAD v4: 7-92489313-G-A
• MyVariant Identifiers: chr7:g.92118627G>A (hg19) ; chr7:g.92489313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489313G>A , CM000669.2:g.92489313G>A	GRCh38
NC_000007.13:g.92118627G>A , CM000669.1:g.92118627G>A	GRCh37
NC_000007.12:g.91956563G>A	NCBI36
NG_008341.1:g.44219C>T
NG_008341.2:g.44219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3747C>T (PEX1) MANE Select	ENSP00000248633.4:p.Asp1249=
ENST00000248633.8:c.3747C>T (PEX1)	ENSP00000248633.4:p.Asp1249=
ENST00000428214.5:c.3576C>T (PEX1)	ENSP00000394413.1:p.Asp1192=
ENST00000438045.5:c.2781C>T (PEX1)	ENSP00000410438.1:p.Asp927=
ENST00000477342.1:n.482C>T (PEX1)
ENST00000484913.5:n.3786C>T (PEX1)
ENST00000496420.5:n.4797C>T (PEX1)
NM_000466.2:c.3747C>T (PEX1)	NP_000457.1:p.Asp1249=
NM_001282677.1:c.3576C>T (PEX1)	NP_001269606.1:p.Asp1192=
NM_001282678.1:c.3123C>T (PEX1)	NP_001269607.1:p.Asp1041=
XM_005250433.3:c.1998C>T (PEX1)	XP_005250490.1:p.Asp666=
XR_242246.3:n.3838C>T (PEX1)
XR_927494.1:n.1036-1930G>A (GATAD1)
XR_927495.1:n.1036-773G>A (GATAD1)
XR_927496.1:n.1041-1930G>A (GATAD1)
XR_927497.1:n.1036-773G>A (GATAD1)
XR_927498.1:n.1124-1930G>A (GATAD1)
XR_927500.1:n.1033-1930G>A (GATAD1)
XR_927502.1:n.1033-773G>A (GATAD1)
XR_927503.1:n.967-1930G>A (GATAD1)
XM_017012319.2:c.1998C>T (PEX1)	XP_016867808.1:p.Asp666=
XR_001744808.2:n.2769C>T (PEX1)
XR_001744842.2:n.2281-1930G>A (GATAD1)
XR_001744843.2:n.2212-1930G>A (GATAD1)
XR_002956472.1:n.2281-773G>A (GATAD1)
XR_002956473.1:n.2369-1930G>A (GATAD1)
XR_002956474.1:n.2286-1930G>A (GATAD1)
XR_242246.5:n.3789C>T (PEX1)
XR_927494.3:n.1063-1930G>A (GATAD1)
XR_927500.3:n.1060-1930G>A (GATAD1)
XR_927503.3:n.994-1930G>A (GATAD1)
NM_000466.3:c.3747C>T (PEX1) MANE Select	NP_000457.1:p.Asp1249=
NM_001282677.2:c.3576C>T (PEX1)	NP_001269606.1:p.Asp1192=
NM_001282678.2:c.3123C>T (PEX1)	NP_001269607.1:p.Asp1041=