Canonical Allele Identifier: CA368178897
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502081T>C , CM000669.2:g.92502081T>C GRCh38
NC_000007.13:g.92131395T>C , CM000669.1:g.92131395T>C GRCh37
NC_000007.12:g.91969331T>C NCBI36
NG_008341.1:g.31451A>G
NG_008341.2:g.31451A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2227-2A>G MANE Select ENSP00000248633.4:n.2227-2A>G
ENST00000248633.8:c.2227-2A>G ENSP00000248633.4:n.2227-2A>G
ENST00000428214.5:c.2056-2A>G ENSP00000394413.1:n.2056-2A>G
ENST00000438045.5:c.1261-2A>G ENSP00000410438.1:n.1261-2A>G
ENST00000484913.5:n.2266-2A>G
ENST00000496092.1:n.25-2A>G
ENST00000496420.5:n.1903-2A>G
NM_000466.2:c.2227-2A>G NP_000457.1:n.2227-2A>G
NM_001282677.1:c.2056-2A>G NP_001269606.1:n.2056-2A>G
NM_001282678.1:c.1603-2A>G NP_001269607.1:n.1603-2A>G
XM_005250433.3:c.478-2A>G XP_005250490.1:n.478-2A>G
XR_242246.3:n.2323-2A>G
XM_017012319.2:c.478-2A>G XP_016867808.1:n.478-2A>G
XR_001744808.2:n.1254-2A>G
XR_242246.5:n.2274-2A>G
NM_000466.3:c.2227-2A>G MANE Select NP_000457.1:n.2227-2A>G
NM_001282677.2:c.2056-2A>G NP_001269606.1:n.2056-2A>G
NM_001282678.2:c.1603-2A>G NP_001269607.1:n.1603-2A>G