Canonical Allele Identifier: CA368204878
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522155C>A , CM000669.2:g.92522155C>A GRCh38
NC_000007.13:g.92151469C>A , CM000669.1:g.92151469C>A GRCh37
NC_000007.12:g.91989405C>A NCBI36
NG_008341.1:g.11377G>T
NG_008341.2:g.11377G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.220G>T MANE Select ENSP00000248633.4:p.Ala74Ser
ENST00000248633.8:c.220G>T ENSP00000248633.4:p.Ala74Ser
ENST00000428214.5:c.220G>T ENSP00000394413.1:p.Ala74Ser
ENST00000438045.5:c.220G>T ENSP00000410438.1:p.Ala74Ser
ENST00000484913.5:n.224G>T
NM_000466.2:c.220G>T NP_000457.1:p.Ala74Ser
NM_001282677.1:c.220G>T NP_001269606.1:p.Ala74Ser
NM_001282678.1:c.-440G>T NP_001269607.1:n.-440G>T
XR_242246.3:n.316G>T
XR_242246.5:n.267G>T
NM_000466.3:c.220G>T MANE Select NP_000457.1:p.Ala74Ser
NM_001282677.2:c.220G>T NP_001269606.1:p.Ala74Ser
NM_001282678.2:c.-440G>T NP_001269607.1:n.-440G>T