Canonical Allele Identifier: CA368163475

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491314-G-C
• MyVariant Identifiers: chr7:g.92120628G>C (hg19) ; chr7:g.92491314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491314G>C , CM000669.2:g.92491314G>C	GRCh38
NC_000007.13:g.92120628G>C , CM000669.1:g.92120628G>C	GRCh37
NC_000007.12:g.91958564G>C	NCBI36
NG_008341.1:g.42218C>G
NG_008341.2:g.42218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3396C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1132Arg
ENST00000248633.8:c.3396C>G (PEX1)	ENSP00000248633.4:p.Ser1132Arg
ENST00000428214.5:c.3225C>G (PEX1)	ENSP00000394413.1:p.Ser1075Arg
ENST00000438045.5:c.2430C>G (PEX1)	ENSP00000410438.1:p.Ser810Arg
ENST00000484913.5:n.3435C>G (PEX1)
ENST00000496420.5:n.4451C>G (PEX1)
NM_000466.2:c.3396C>G (PEX1)	NP_000457.1:p.Ser1132Arg
NM_001282677.1:c.3225C>G (PEX1)	NP_001269606.1:p.Ser1075Arg
NM_001282678.1:c.2772C>G (PEX1)	NP_001269607.1:p.Ser924Arg
XM_005250433.3:c.1647C>G (PEX1)	XP_005250490.1:p.Ser549Arg
XR_242246.3:n.3492C>G (PEX1)
XR_927494.1:n.1107G>C (GATAD1)
XR_927496.1:n.1112G>C (GATAD1)
XR_927497.1:n.1164G>C (GATAD1)
XR_927498.1:n.1195G>C (GATAD1)
XR_927500.1:n.1104G>C (GATAD1)
XR_927503.1:n.1038G>C (GATAD1)
XM_017012319.2:c.1647C>G (PEX1)	XP_016867808.1:p.Ser549Arg
XR_001744808.2:n.2423C>G (PEX1)
XR_001744842.2:n.2352G>C (GATAD1)
XR_001744843.2:n.2283G>C (GATAD1)
XR_002956472.1:n.2409G>C (GATAD1)
XR_002956473.1:n.2440G>C (GATAD1)
XR_002956474.1:n.2357G>C (GATAD1)
XR_242246.5:n.3443C>G (PEX1)
XR_927494.3:n.1134G>C (GATAD1)
XR_927500.3:n.1131G>C (GATAD1)
XR_927503.3:n.1065G>C (GATAD1)
NM_000466.3:c.3396C>G (PEX1) MANE Select	NP_000457.1:p.Ser1132Arg
NM_001282677.2:c.3225C>G (PEX1)	NP_001269606.1:p.Ser1075Arg
NM_001282678.2:c.2772C>G (PEX1)	NP_001269607.1:p.Ser924Arg