Canonical Allele Identifier: CA4341156
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs751076530
gnomAD v2: 7-92131312-G-C
gnomAD v4: 7-92501998-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501998G>C , CM000669.2:g.92501998G>C GRCh38
NC_000007.13:g.92131312G>C , CM000669.1:g.92131312G>C GRCh37
NC_000007.12:g.91969248G>C NCBI36
NG_008341.1:g.31534C>G
NG_008341.2:g.31534C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2308C>G MANE Select ENSP00000248633.4:p.Gln770Glu
ENST00000248633.8:c.2308C>G ENSP00000248633.4:p.Gln770Glu
ENST00000428214.5:c.2137C>G ENSP00000394413.1:p.Gln713Glu
ENST00000438045.5:c.1342C>G ENSP00000410438.1:p.Gln448Glu
ENST00000484913.5:n.2347C>G
ENST00000496092.1:n.106C>G
ENST00000496420.5:n.1984C>G
NM_000466.2:c.2308C>G NP_000457.1:p.Gln770Glu
NM_001282677.1:c.2137C>G NP_001269606.1:p.Gln713Glu
NM_001282678.1:c.1684C>G NP_001269607.1:p.Gln562Glu
XM_005250433.3:c.559C>G XP_005250490.1:p.Gln187Glu
XR_242246.3:n.2404C>G
XM_017012319.2:c.559C>G XP_016867808.1:p.Gln187Glu
XR_001744808.2:n.1335C>G
XR_242246.5:n.2355C>G
NM_000466.3:c.2308C>G MANE Select NP_000457.1:p.Gln770Glu
NM_001282677.2:c.2137C>G NP_001269606.1:p.Gln713Glu
NM_001282678.2:c.1684C>G NP_001269607.1:p.Gln562Glu