Canonical Allele Identifier: CA456483164

Gene: PEX1

Linked Data

• gnomAD v4: 7-92503083-A-G
• MyVariant Identifiers: chr7:g.92132397A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503083A>G , CM000669.2:g.92503083A>G	GRCh38
NC_000007.13:g.92132397A>G , CM000669.1:g.92132397A>G	GRCh37
NC_000007.12:g.91970333A>G	NCBI36
NG_008341.1:g.30449T>C
NG_008341.2:g.30449T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2184T>C MANE Select	ENSP00000248633.4:p.Val728=
ENST00000248633.8:c.2184T>C	ENSP00000248633.4:p.Val728=
ENST00000428214.5:c.2013T>C	ENSP00000394413.1:p.Val671=
ENST00000438045.5:c.1218T>C	ENSP00000410438.1:p.Val406=
ENST00000484913.5:n.2223T>C
ENST00000496420.5:n.1860T>C
NM_000466.2:c.2184T>C	NP_000457.1:p.Val728=
NM_001282677.1:c.2013T>C	NP_001269606.1:p.Val671=
NM_001282678.1:c.1560T>C	NP_001269607.1:p.Val520=
XM_005250433.3:c.435T>C	XP_005250490.1:p.Val145=
XR_242246.3:n.2280T>C
XM_017012319.2:c.435T>C	XP_016867808.1:p.Val145=
XR_001744808.2:n.1211T>C
XR_242246.5:n.2231T>C
NM_000466.3:c.2184T>C MANE Select	NP_000457.1:p.Val728=
NM_001282677.2:c.2013T>C	NP_001269606.1:p.Val671=
NM_001282678.2:c.1560T>C	NP_001269607.1:p.Val520=