Canonical Allele Identifier: CA161964530
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs371045458
gnomAD v3: 7-92504707-T-G
gnomAD v4: 7-92504707-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504707T>G , CM000669.2:g.92504707T>G GRCh38
NC_000007.13:g.92134021T>G , CM000669.1:g.92134021T>G GRCh37
NC_000007.12:g.91971957T>G NCBI36
NG_008341.1:g.28825A>C
NG_008341.2:g.28825A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+25A>C MANE Select ENSP00000248633.4:n.2071+25A>C
ENST00000248633.8:c.2071+25A>C ENSP00000248633.4:n.2071+25A>C
ENST00000428214.5:c.1901-1512A>C ENSP00000394413.1:n.1901-1512A>C
ENST00000438045.5:c.1105+25A>C ENSP00000410438.1:n.1105+25A>C
ENST00000484913.5:n.2110+25A>C
ENST00000496420.5:n.1747+25A>C
NM_000466.2:c.2071+25A>C NP_000457.1:n.2071+25A>C
NM_001282677.1:c.1901-1512A>C NP_001269606.1:n.1901-1512A>C
NM_001282678.1:c.1447+25A>C NP_001269607.1:n.1447+25A>C
XM_005250433.3:c.322+25A>C XP_005250490.1:n.322+25A>C
XR_242246.3:n.2167+25A>C
XM_017012319.2:c.322+25A>C XP_016867808.1:n.322+25A>C
XR_001744808.2:n.1098+25A>C
XR_242246.5:n.2118+25A>C
NM_000466.3:c.2071+25A>C MANE Select NP_000457.1:n.2071+25A>C
NM_001282677.2:c.1901-1512A>C NP_001269606.1:n.1901-1512A>C
NM_001282678.2:c.1447+25A>C NP_001269607.1:n.1447+25A>C