Canonical Allele Identifier: CA4341233

Gene: PEX1

Linked Data

• dbSNP Id: rs772833752
• ExAC: 7:92134074 A / T
• gnomAD v2: 7-92134074-A-T
• MyVariant Identifiers: chr7:g.92134074A>T (hg19) ; chr7:g.92504760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504760A>T , CM000669.2:g.92504760A>T	GRCh38
NC_000007.13:g.92134074A>T , CM000669.1:g.92134074A>T	GRCh37
NC_000007.12:g.91972010A>T	NCBI36
NG_008341.1:g.28772T>A
NG_008341.2:g.28772T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2043T>A MANE Select	ENSP00000248633.4:p.Asp681Glu
ENST00000248633.8:c.2043T>A	ENSP00000248633.4:p.Asp681Glu
ENST00000428214.5:c.1900+1488T>A	ENSP00000394413.1:n.1900+1488T>A
ENST00000438045.5:c.1077T>A	ENSP00000410438.1:p.Asp359Glu
ENST00000484913.5:n.2082T>A
ENST00000496420.5:n.1719T>A
NM_000466.2:c.2043T>A	NP_000457.1:p.Asp681Glu
NM_001282677.1:c.1900+1488T>A	NP_001269606.1:n.1900+1488T>A
NM_001282678.1:c.1419T>A	NP_001269607.1:p.Asp473Glu
XM_005250433.3:c.294T>A	XP_005250490.1:p.Asp98Glu
XR_242246.3:n.2139T>A
XM_017012319.2:c.294T>A	XP_016867808.1:p.Asp98Glu
XR_001744808.2:n.1070T>A
XR_242246.5:n.2090T>A
NM_000466.3:c.2043T>A MANE Select	NP_000457.1:p.Asp681Glu
NM_001282677.2:c.1900+1488T>A	NP_001269606.1:n.1900+1488T>A
NM_001282678.2:c.1419T>A	NP_001269607.1:p.Asp473Glu