Canonical Allele Identifier: CA368176801

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131205T>A (hg19) ; chr7:g.92501891T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501891T>A , CM000669.2:g.92501891T>A	GRCh38
NC_000007.13:g.92131205T>A , CM000669.1:g.92131205T>A	GRCh37
NC_000007.12:g.91969141T>A	NCBI36
NG_008341.1:g.31641A>T
NG_008341.2:g.31641A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2415A>T MANE Select	ENSP00000248633.4:p.Glu805Asp
ENST00000248633.8:c.2415A>T	ENSP00000248633.4:p.Glu805Asp
ENST00000428214.5:c.2244A>T	ENSP00000394413.1:p.Glu748Asp
ENST00000438045.5:c.1449A>T	ENSP00000410438.1:p.Glu483Asp
ENST00000484913.5:n.2454A>T
ENST00000496092.1:n.213A>T
ENST00000496420.5:n.2091A>T
NM_000466.2:c.2415A>T	NP_000457.1:p.Glu805Asp
NM_001282677.1:c.2244A>T	NP_001269606.1:p.Glu748Asp
NM_001282678.1:c.1791A>T	NP_001269607.1:p.Glu597Asp
XM_005250433.3:c.666A>T	XP_005250490.1:p.Glu222Asp
XR_242246.3:n.2511A>T
XM_017012319.2:c.666A>T	XP_016867808.1:p.Glu222Asp
XR_001744808.2:n.1442A>T
XR_242246.5:n.2462A>T
NM_000466.3:c.2415A>T MANE Select	NP_000457.1:p.Glu805Asp
NM_001282677.2:c.2244A>T	NP_001269606.1:p.Glu748Asp
NM_001282678.2:c.1791A>T	NP_001269607.1:p.Glu597Asp