Canonical Allele Identifier: CA4341020
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086285
ClinVar RCV Id: RCV001403983
dbSNP Id: rs766160850
gnomAD v2: 7-92126017-G-T
gnomAD v4: 7-92496703-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496703G>T , CM000669.2:g.92496703G>T GRCh38
NC_000007.13:g.92126017G>T , CM000669.1:g.92126017G>T GRCh37
NC_000007.12:g.91963953G>T NCBI36
NG_008341.1:g.36829C>A
NG_008341.2:g.36829C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2783+10C>A MANE Select ENSP00000248633.4:n.2783+10C>A
ENST00000248633.8:c.2783+10C>A ENSP00000248633.4:n.2783+10C>A
ENST00000428214.5:c.2612+10C>A ENSP00000394413.1:n.2612+10C>A
ENST00000438045.5:c.1817+10C>A ENSP00000410438.1:n.1817+10C>A
ENST00000484913.5:n.2822+10C>A
ENST00000496420.5:n.2675+10C>A
NM_000466.2:c.2783+10C>A NP_000457.1:n.2783+10C>A
NM_001282677.1:c.2612+10C>A NP_001269606.1:n.2612+10C>A
NM_001282678.1:c.2159+10C>A NP_001269607.1:n.2159+10C>A
XM_005250433.3:c.1034+10C>A XP_005250490.1:n.1034+10C>A
XR_242246.3:n.2879+10C>A
XM_017012319.2:c.1034+10C>A XP_016867808.1:n.1034+10C>A
XR_001744808.2:n.1810+10C>A
XR_242246.5:n.2830+10C>A
NM_000466.3:c.2783+10C>A MANE Select NP_000457.1:n.2783+10C>A
NM_001282677.2:c.2612+10C>A NP_001269606.1:n.2612+10C>A
NM_001282678.2:c.2159+10C>A NP_001269607.1:n.2159+10C>A