Canonical Allele Identifier: CA368197475

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146654T>A (hg19) ; chr7:g.92517340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517340T>A , CM000669.2:g.92517340T>A	GRCh38
NC_000007.13:g.92146654T>A , CM000669.1:g.92146654T>A	GRCh37
NC_000007.12:g.91984590T>A	NCBI36
NG_008341.1:g.16192A>T
NG_008341.2:g.16192A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1175A>T MANE Select	ENSP00000248633.4:p.Glu392Val
ENST00000248633.8:c.1175A>T	ENSP00000248633.4:p.Glu392Val
ENST00000422866.1:c.76A>T
ENST00000428214.5:c.1175A>T	ENSP00000394413.1:p.Glu392Val
ENST00000438045.5:c.274-3373A>T	ENSP00000410438.1:n.274-3373A>T
ENST00000484913.5:n.1214A>T
NM_000466.2:c.1175A>T	NP_000457.1:p.Glu392Val
NM_001282677.1:c.1175A>T	NP_001269606.1:p.Glu392Val
NM_001282678.1:c.551A>T	NP_001269607.1:p.Glu184Val
XR_242246.3:n.1271A>T
XM_017012319.2:c.-492A>T	XP_016867808.1:n.-492A>T
XR_001744808.2:n.285A>T
XR_242246.5:n.1222A>T
NM_000466.3:c.1175A>T MANE Select	NP_000457.1:p.Glu392Val
NM_001282677.2:c.1175A>T	NP_001269606.1:p.Glu392Val
NM_001282678.2:c.551A>T	NP_001269607.1:p.Glu184Val