Canonical Allele Identifier: CA4340871

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs760427473
• ExAC: 7:92120815 T / G
• gnomAD v2: 7-92120815-T-G
• gnomAD v4: 7-92491501-T-G
• MyVariant Identifiers: chr7:g.92120815T>G (hg19) ; chr7:g.92491501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491501T>G , CM000669.2:g.92491501T>G	GRCh38
NC_000007.13:g.92120815T>G , CM000669.1:g.92120815T>G	GRCh37
NC_000007.12:g.91958751T>G	NCBI36
NG_008341.1:g.42031A>C
NG_008341.2:g.42031A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3209A>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1070Ala
ENST00000248633.8:c.3209A>C (PEX1)	ENSP00000248633.4:p.Asp1070Ala
ENST00000428214.5:c.3038A>C (PEX1)	ENSP00000394413.1:p.Asp1013Ala
ENST00000438045.5:c.2243A>C (PEX1)	ENSP00000410438.1:p.Asp748Ala
ENST00000484913.5:n.3248A>C (PEX1)
ENST00000496420.5:n.4264A>C (PEX1)
NM_000466.2:c.3209A>C (PEX1)	NP_000457.1:p.Asp1070Ala
NM_001282677.1:c.3038A>C (PEX1)	NP_001269606.1:p.Asp1013Ala
NM_001282678.1:c.2585A>C (PEX1)	NP_001269607.1:p.Asp862Ala
XM_005250433.3:c.1460A>C (PEX1)	XP_005250490.1:p.Asp487Ala
XR_242246.3:n.3305A>C (PEX1)
XM_017012319.2:c.1460A>C (PEX1)	XP_016867808.1:p.Asp487Ala
XR_001744808.2:n.2236A>C (PEX1)
XR_001744842.2:n.2539T>G (GATAD1)
XR_001744843.2:n.2470T>G (GATAD1)
XR_002956472.1:n.2596T>G (GATAD1)
XR_002956473.1:n.2627T>G (GATAD1)
XR_002956474.1:n.2544T>G (GATAD1)
XR_242246.5:n.3256A>C (PEX1)
XR_927494.3:n.1321T>G (GATAD1)
XR_927500.3:n.1318T>G (GATAD1)
XR_927503.3:n.1252T>G (GATAD1)
NM_000466.3:c.3209A>C (PEX1) MANE Select	NP_000457.1:p.Asp1070Ala
NM_001282677.2:c.3038A>C (PEX1)	NP_001269606.1:p.Asp1013Ala
NM_001282678.2:c.2585A>C (PEX1)	NP_001269607.1:p.Asp862Ala