Canonical Allele Identifier: CA4341239
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290970
dbSNP Id: rs141509344
gnomAD v2: 7-92134096-G-A
gnomAD v3: 7-92504782-G-A
gnomAD v4: 7-92504782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504782G>A , CM000669.2:g.92504782G>A GRCh38
NC_000007.13:g.92134096G>A , CM000669.1:g.92134096G>A GRCh37
NC_000007.12:g.91972032G>A NCBI36
NG_008341.1:g.28750C>T
NG_008341.2:g.28750C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2021C>T MANE Select ENSP00000248633.4:p.Pro674Leu
ENST00000248633.8:c.2021C>T ENSP00000248633.4:p.Pro674Leu
ENST00000428214.5:c.1900+1466C>T ENSP00000394413.1:n.1900+1466C>T
ENST00000438045.5:c.1055C>T ENSP00000410438.1:p.Pro352Leu
ENST00000484913.5:n.2060C>T
ENST00000496420.5:n.1697C>T
NM_000466.2:c.2021C>T NP_000457.1:p.Pro674Leu
NM_001282677.1:c.1900+1466C>T NP_001269606.1:n.1900+1466C>T
NM_001282678.1:c.1397C>T NP_001269607.1:p.Pro466Leu
XM_005250433.3:c.272C>T XP_005250490.1:p.Pro91Leu
XR_242246.3:n.2117C>T
XM_017012319.2:c.272C>T XP_016867808.1:p.Pro91Leu
XR_001744808.2:n.1048C>T
XR_242246.5:n.2068C>T
NM_000466.3:c.2021C>T MANE Select NP_000457.1:p.Pro674Leu
NM_001282677.2:c.1900+1466C>T NP_001269606.1:n.1900+1466C>T
NM_001282678.2:c.1397C>T NP_001269607.1:p.Pro466Leu