Canonical Allele Identifier: CA368200036
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1245230849
gnomAD v2: 7-92147068-G-A
gnomAD v4: 7-92517754-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517754G>A , CM000669.2:g.92517754G>A GRCh38
NC_000007.13:g.92147068G>A , CM000669.1:g.92147068G>A GRCh37
NC_000007.12:g.91985004G>A NCBI36
NG_008341.1:g.15778C>T
NG_008341.2:g.15778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.761C>T MANE Select ENSP00000248633.4:p.Ser254Phe
ENST00000248633.8:c.761C>T ENSP00000248633.4:p.Ser254Phe
ENST00000428214.5:c.761C>T ENSP00000394413.1:p.Ser254Phe
ENST00000438045.5:c.274-3787C>T ENSP00000410438.1:n.274-3787C>T
ENST00000484913.5:n.800C>T
NM_000466.2:c.761C>T NP_000457.1:p.Ser254Phe
NM_001282677.1:c.761C>T NP_001269606.1:p.Ser254Phe
NM_001282678.1:c.137C>T NP_001269607.1:p.Ser46Phe
XR_242246.3:n.857C>T
XR_242246.5:n.808C>T
NM_000466.3:c.761C>T MANE Select NP_000457.1:p.Ser254Phe
NM_001282677.2:c.761C>T NP_001269606.1:p.Ser254Phe
NM_001282678.2:c.137C>T NP_001269607.1:p.Ser46Phe