Canonical Allele Identifier: CA4341521
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs769114978
gnomAD v2: 7-92146930-G-A
gnomAD v3: 7-92517616-G-A
gnomAD v4: 7-92517616-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517616G>A , CM000669.2:g.92517616G>A GRCh38
NC_000007.13:g.92146930G>A , CM000669.1:g.92146930G>A GRCh37
NC_000007.12:g.91984866G>A NCBI36
NG_008341.1:g.15916C>T
NG_008341.2:g.15916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.899C>T MANE Select ENSP00000248633.4:p.Ala300Val
ENST00000248633.8:c.899C>T ENSP00000248633.4:p.Ala300Val
ENST00000428214.5:c.899C>T ENSP00000394413.1:p.Ala300Val
ENST00000438045.5:c.274-3649C>T ENSP00000410438.1:n.274-3649C>T
ENST00000484913.5:n.938C>T
NM_000466.2:c.899C>T NP_000457.1:p.Ala300Val
NM_001282677.1:c.899C>T NP_001269606.1:p.Ala300Val
NM_001282678.1:c.275C>T NP_001269607.1:p.Ala92Val
XR_242246.3:n.995C>T
XM_017012319.2:c.-768C>T XP_016867808.1:n.-768C>T
XR_001744808.2:n.9C>T
XR_242246.5:n.946C>T
NM_000466.3:c.899C>T MANE Select NP_000457.1:p.Ala300Val
NM_001282677.2:c.899C>T NP_001269606.1:p.Ala300Val
NM_001282678.2:c.275C>T NP_001269607.1:p.Ala92Val