Canonical Allele Identifier: CA368164146

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791310155
• MyVariant Identifiers: chr7:g.92120721T>G (hg19) ; chr7:g.92491407T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491407T>G , CM000669.2:g.92491407T>G	GRCh38
NC_000007.13:g.92120721T>G , CM000669.1:g.92120721T>G	GRCh37
NC_000007.12:g.91958657T>G	NCBI36
NG_008341.1:g.42125A>C
NG_008341.2:g.42125A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3303A>C (PEX1) MANE Select	ENSP00000248633.4:p.Glu1101Asp
ENST00000248633.8:c.3303A>C (PEX1)	ENSP00000248633.4:p.Glu1101Asp
ENST00000428214.5:c.3132A>C (PEX1)	ENSP00000394413.1:p.Glu1044Asp
ENST00000438045.5:c.2337A>C (PEX1)	ENSP00000410438.1:p.Glu779Asp
ENST00000484913.5:n.3342A>C (PEX1)
ENST00000496420.5:n.4358A>C (PEX1)
NM_000466.2:c.3303A>C (PEX1)	NP_000457.1:p.Glu1101Asp
NM_001282677.1:c.3132A>C (PEX1)	NP_001269606.1:p.Glu1044Asp
NM_001282678.1:c.2679A>C (PEX1)	NP_001269607.1:p.Glu893Asp
XM_005250433.3:c.1554A>C (PEX1)	XP_005250490.1:p.Glu518Asp
XR_242246.3:n.3399A>C (PEX1)
XM_017012319.2:c.1554A>C (PEX1)	XP_016867808.1:p.Glu518Asp
XR_001744808.2:n.2330A>C (PEX1)
XR_001744842.2:n.2445T>G (GATAD1)
XR_001744843.2:n.2376T>G (GATAD1)
XR_002956472.1:n.2502T>G (GATAD1)
XR_002956473.1:n.2533T>G (GATAD1)
XR_002956474.1:n.2450T>G (GATAD1)
XR_242246.5:n.3350A>C (PEX1)
XR_927494.3:n.1227T>G (GATAD1)
XR_927500.3:n.1224T>G (GATAD1)
XR_927503.3:n.1158T>G (GATAD1)
NM_000466.3:c.3303A>C (PEX1) MANE Select	NP_000457.1:p.Glu1101Asp
NM_001282677.2:c.3132A>C (PEX1)	NP_001269606.1:p.Glu1044Asp
NM_001282678.2:c.2679A>C (PEX1)	NP_001269607.1:p.Glu893Asp