Canonical Allele Identifier: CA456484095
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92151467A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522153A>G , CM000669.2:g.92522153A>G GRCh38
NC_000007.13:g.92151467A>G , CM000669.1:g.92151467A>G GRCh37
NC_000007.12:g.91989403A>G NCBI36
NG_008341.1:g.11379T>C
NG_008341.2:g.11379T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.222T>C MANE Select ENSP00000248633.4:p.Ala74=
ENST00000248633.8:c.222T>C ENSP00000248633.4:p.Ala74=
ENST00000428214.5:c.222T>C ENSP00000394413.1:p.Ala74=
ENST00000438045.5:c.222T>C ENSP00000410438.1:p.Ala74=
ENST00000484913.5:n.226T>C
NM_000466.2:c.222T>C NP_000457.1:p.Ala74=
NM_001282677.1:c.222T>C NP_001269606.1:p.Ala74=
NM_001282678.1:c.-438T>C NP_001269607.1:n.-438T>C
XR_242246.3:n.318T>C
XR_242246.5:n.269T>C
NM_000466.3:c.222T>C MANE Select NP_000457.1:p.Ala74=
NM_001282677.2:c.222T>C NP_001269606.1:p.Ala74=
NM_001282678.2:c.-438T>C NP_001269607.1:n.-438T>C