Canonical Allele Identifier: CA4341608
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs202057710
gnomAD v2: 7-92147475-G-C
gnomAD v3: 7-92518161-G-C
gnomAD v4: 7-92518161-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518161G>C , CM000669.2:g.92518161G>C GRCh38
NC_000007.13:g.92147475G>C , CM000669.1:g.92147475G>C GRCh37
NC_000007.12:g.91985411G>C NCBI36
NG_008341.1:g.15371C>G
NG_008341.2:g.15371C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.452C>G MANE Select ENSP00000248633.4:p.Thr151Arg
ENST00000248633.8:c.452C>G ENSP00000248633.4:p.Thr151Arg
ENST00000428214.5:c.452C>G ENSP00000394413.1:p.Thr151Arg
ENST00000438045.5:c.273+3941C>G ENSP00000410438.1:n.273+3941C>G
ENST00000484913.5:n.491C>G
NM_000466.2:c.452C>G NP_000457.1:p.Thr151Arg
NM_001282677.1:c.452C>G NP_001269606.1:p.Thr151Arg
NM_001282678.1:c.-173C>G NP_001269607.1:n.-173C>G
XR_242246.3:n.548C>G
XR_242246.5:n.499C>G
NM_000466.3:c.452C>G MANE Select NP_000457.1:p.Thr151Arg
NM_001282677.2:c.452C>G NP_001269606.1:p.Thr151Arg
NM_001282678.2:c.-173C>G NP_001269607.1:n.-173C>G