Canonical Allele Identifier: CA368165011

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791319646
• gnomAD v3: 7-92491502-C-T
• gnomAD v4: 7-92491502-C-T
• MyVariant Identifiers: chr7:g.92120816C>T (hg19) ; chr7:g.92491502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491502C>T , CM000669.2:g.92491502C>T	GRCh38
NC_000007.13:g.92120816C>T , CM000669.1:g.92120816C>T	GRCh37
NC_000007.12:g.91958752C>T	NCBI36
NG_008341.1:g.42030G>A
NG_008341.2:g.42030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208G>A (PEX1) MANE Select	ENSP00000248633.4:p.Asp1070Asn
ENST00000248633.8:c.3208G>A (PEX1)	ENSP00000248633.4:p.Asp1070Asn
ENST00000428214.5:c.3037G>A (PEX1)	ENSP00000394413.1:p.Asp1013Asn
ENST00000438045.5:c.2242G>A (PEX1)	ENSP00000410438.1:p.Asp748Asn
ENST00000484913.5:n.3247G>A (PEX1)
ENST00000496420.5:n.4263G>A (PEX1)
NM_000466.2:c.3208G>A (PEX1)	NP_000457.1:p.Asp1070Asn
NM_001282677.1:c.3037G>A (PEX1)	NP_001269606.1:p.Asp1013Asn
NM_001282678.1:c.2584G>A (PEX1)	NP_001269607.1:p.Asp862Asn
XM_005250433.3:c.1459G>A (PEX1)	XP_005250490.1:p.Asp487Asn
XR_242246.3:n.3304G>A (PEX1)
XM_017012319.2:c.1459G>A (PEX1)	XP_016867808.1:p.Asp487Asn
XR_001744808.2:n.2235G>A (PEX1)
XR_001744842.2:n.2540C>T (GATAD1)
XR_001744843.2:n.2471C>T (GATAD1)
XR_002956472.1:n.2597C>T (GATAD1)
XR_002956473.1:n.2628C>T (GATAD1)
XR_002956474.1:n.2545C>T (GATAD1)
XR_242246.5:n.3255G>A (PEX1)
XR_927494.3:n.1322C>T (GATAD1)
XR_927500.3:n.1319C>T (GATAD1)
XR_927503.3:n.1253C>T (GATAD1)
NM_000466.3:c.3208G>A (PEX1) MANE Select	NP_000457.1:p.Asp1070Asn
NM_001282677.2:c.3037G>A (PEX1)	NP_001269606.1:p.Asp1013Asn
NM_001282678.2:c.2584G>A (PEX1)	NP_001269607.1:p.Asp862Asn