Canonical Allele Identifier: CA161974593
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs950438834
gnomAD v3: 7-92518912-T-C
gnomAD v4: 7-92518912-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518912T>C , CM000669.2:g.92518912T>C GRCh38
NC_000007.13:g.92148226T>C , CM000669.1:g.92148226T>C GRCh37
NC_000007.12:g.91986162T>C NCBI36
NG_008341.1:g.14620A>G
NG_008341.2:g.14620A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.357+83A>G MANE Select ENSP00000248633.4:n.357+83A>G
ENST00000248633.8:c.357+83A>G ENSP00000248633.4:n.357+83A>G
ENST00000428214.5:c.357+83A>G ENSP00000394413.1:n.357+83A>G
ENST00000438045.5:c.273+3190A>G ENSP00000410438.1:n.273+3190A>G
ENST00000484913.5:n.396+48A>G
NM_000466.2:c.357+83A>G NP_000457.1:n.357+83A>G
NM_001282677.1:c.357+83A>G NP_001269606.1:n.357+83A>G
NM_001282678.1:c.-268+48A>G NP_001269607.1:n.-268+48A>G
XR_242246.3:n.453+83A>G
XR_242246.5:n.404+83A>G
NM_000466.3:c.357+83A>G MANE Select NP_000457.1:n.357+83A>G
NM_001282677.2:c.357+83A>G NP_001269606.1:n.357+83A>G
NM_001282678.2:c.-268+48A>G NP_001269607.1:n.-268+48A>G