Canonical Allele Identifier: CA161973494
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407569
ClinVar RCV Id: RCV001937821
dbSNP Id: rs370441413
gnomAD v4: 7-92517534-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517534G>C , CM000669.2:g.92517534G>C GRCh38
NC_000007.13:g.92146848G>C , CM000669.1:g.92146848G>C GRCh37
NC_000007.12:g.91984784G>C NCBI36
NG_008341.1:g.15998C>G
NG_008341.2:g.15998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.981C>G MANE Select ENSP00000248633.4:p.Ser327Arg
ENST00000248633.8:c.981C>G ENSP00000248633.4:p.Ser327Arg
ENST00000428214.5:c.981C>G ENSP00000394413.1:p.Ser327Arg
ENST00000438045.5:c.274-3567C>G ENSP00000410438.1:n.274-3567C>G
ENST00000484913.5:n.1020C>G
NM_000466.2:c.981C>G NP_000457.1:p.Ser327Arg
NM_001282677.1:c.981C>G NP_001269606.1:p.Ser327Arg
NM_001282678.1:c.357C>G NP_001269607.1:p.Ser119Arg
XR_242246.3:n.1077C>G
XM_017012319.2:c.-686C>G XP_016867808.1:n.-686C>G
XR_001744808.2:n.91C>G
XR_242246.5:n.1028C>G
NM_000466.3:c.981C>G MANE Select NP_000457.1:p.Ser327Arg
NM_001282677.2:c.981C>G NP_001269606.1:p.Ser327Arg
NM_001282678.2:c.357C>G NP_001269607.1:p.Ser119Arg