Canonical Allele Identifier: CA368182174

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132494A>G (hg19) ; chr7:g.92503180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503180A>G , CM000669.2:g.92503180A>G	GRCh38
NC_000007.13:g.92132494A>G , CM000669.1:g.92132494A>G	GRCh37
NC_000007.12:g.91970430A>G	NCBI36
NG_008341.1:g.30352T>C
NG_008341.2:g.30352T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2087T>C MANE Select	ENSP00000248633.4:p.Ile696Thr
ENST00000248633.8:c.2087T>C	ENSP00000248633.4:p.Ile696Thr
ENST00000428214.5:c.1916T>C	ENSP00000394413.1:p.Ile639Thr
ENST00000438045.5:c.1121T>C	ENSP00000410438.1:p.Ile374Thr
ENST00000484913.5:n.2126T>C
ENST00000496420.5:n.1763T>C
NM_000466.2:c.2087T>C	NP_000457.1:p.Ile696Thr
NM_001282677.1:c.1916T>C	NP_001269606.1:p.Ile639Thr
NM_001282678.1:c.1463T>C	NP_001269607.1:p.Ile488Thr
XM_005250433.3:c.338T>C	XP_005250490.1:p.Ile113Thr
XR_242246.3:n.2183T>C
XM_017012319.2:c.338T>C	XP_016867808.1:p.Ile113Thr
XR_001744808.2:n.1114T>C
XR_242246.5:n.2134T>C
NM_000466.3:c.2087T>C MANE Select	NP_000457.1:p.Ile696Thr
NM_001282677.2:c.1916T>C	NP_001269606.1:p.Ile639Thr
NM_001282678.2:c.1463T>C	NP_001269607.1:p.Ile488Thr