Canonical Allele Identifier: CA368163387

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1353983998
• gnomAD v2: 7-92120618-A-C
• gnomAD v4: 7-92491304-A-C
• MyVariant Identifiers: chr7:g.92120618A>C (hg19) ; chr7:g.92491304A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491304A>C , CM000669.2:g.92491304A>C	GRCh38
NC_000007.13:g.92120618A>C , CM000669.1:g.92120618A>C	GRCh37
NC_000007.12:g.91958554A>C	NCBI36
NG_008341.1:g.42228T>G
NG_008341.2:g.42228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3406T>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1136Ala
ENST00000248633.8:c.3406T>G (PEX1)	ENSP00000248633.4:p.Ser1136Ala
ENST00000428214.5:c.3235T>G (PEX1)	ENSP00000394413.1:p.Ser1079Ala
ENST00000438045.5:c.2440T>G (PEX1)	ENSP00000410438.1:p.Ser814Ala
ENST00000484913.5:n.3445T>G (PEX1)
ENST00000496420.5:n.4461T>G (PEX1)
NM_000466.2:c.3406T>G (PEX1)	NP_000457.1:p.Ser1136Ala
NM_001282677.1:c.3235T>G (PEX1)	NP_001269606.1:p.Ser1079Ala
NM_001282678.1:c.2782T>G (PEX1)	NP_001269607.1:p.Ser928Ala
XM_005250433.3:c.1657T>G (PEX1)	XP_005250490.1:p.Ser553Ala
XR_242246.3:n.3502T>G (PEX1)
XR_927494.1:n.1097A>C (GATAD1)
XR_927496.1:n.1102A>C (GATAD1)
XR_927497.1:n.1154A>C (GATAD1)
XR_927498.1:n.1185A>C (GATAD1)
XR_927500.1:n.1094A>C (GATAD1)
XR_927503.1:n.1028A>C (GATAD1)
XM_017012319.2:c.1657T>G (PEX1)	XP_016867808.1:p.Ser553Ala
XR_001744808.2:n.2433T>G (PEX1)
XR_001744842.2:n.2342A>C (GATAD1)
XR_001744843.2:n.2273A>C (GATAD1)
XR_002956472.1:n.2399A>C (GATAD1)
XR_002956473.1:n.2430A>C (GATAD1)
XR_002956474.1:n.2347A>C (GATAD1)
XR_242246.5:n.3453T>G (PEX1)
XR_927494.3:n.1124A>C (GATAD1)
XR_927500.3:n.1121A>C (GATAD1)
XR_927503.3:n.1055A>C (GATAD1)
NM_000466.3:c.3406T>G (PEX1) MANE Select	NP_000457.1:p.Ser1136Ala
NM_001282677.2:c.3235T>G (PEX1)	NP_001269606.1:p.Ser1079Ala
NM_001282678.2:c.2782T>G (PEX1)	NP_001269607.1:p.Ser928Ala