Canonical Allele Identifier: CA456624329
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92147106T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517792T>G , CM000669.2:g.92517792T>G GRCh38
NC_000007.13:g.92147106T>G , CM000669.1:g.92147106T>G GRCh37
NC_000007.12:g.91985042T>G NCBI36
NG_008341.1:g.15740A>C
NG_008341.2:g.15740A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.723A>C MANE Select ENSP00000248633.4:p.Ser241=
ENST00000248633.8:c.723A>C ENSP00000248633.4:p.Ser241=
ENST00000428214.5:c.723A>C ENSP00000394413.1:p.Ser241=
ENST00000438045.5:c.274-3825A>C ENSP00000410438.1:n.274-3825A>C
ENST00000484913.5:n.762A>C
NM_000466.2:c.723A>C NP_000457.1:p.Ser241=
NM_001282677.1:c.723A>C NP_001269606.1:p.Ser241=
NM_001282678.1:c.99A>C NP_001269607.1:p.Ser33=
XR_242246.3:n.819A>C
XR_242246.5:n.770A>C
NM_000466.3:c.723A>C MANE Select NP_000457.1:p.Ser241=
NM_001282677.2:c.723A>C NP_001269606.1:p.Ser241=
NM_001282678.2:c.99A>C NP_001269607.1:p.Ser33=