Canonical Allele Identifier: CA368185174
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506313A>C , CM000669.2:g.92506313A>C GRCh38
NC_000007.13:g.92135627A>C , CM000669.1:g.92135627A>C GRCh37
NC_000007.12:g.91973563A>C NCBI36
NG_008341.1:g.27219T>G
NG_008341.2:g.27219T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1835T>G MANE Select ENSP00000248633.4:p.Ile612Ser
ENST00000248633.8:c.1835T>G ENSP00000248633.4:p.Ile612Ser
ENST00000422866.1:c.653T>G
ENST00000428214.5:c.1835T>G ENSP00000394413.1:p.Ile612Ser
ENST00000438045.5:c.869T>G ENSP00000410438.1:p.Ile290Ser
ENST00000484913.5:n.1874T>G
ENST00000496420.5:n.1511T>G
NM_000466.2:c.1835T>G NP_000457.1:p.Ile612Ser
NM_001282677.1:c.1835T>G NP_001269606.1:p.Ile612Ser
NM_001282678.1:c.1211T>G NP_001269607.1:p.Ile404Ser
XM_005250433.3:c.86T>G XP_005250490.1:p.Ile29Ser
XR_242246.3:n.1931T>G
XM_017012319.2:c.86T>G XP_016867808.1:p.Ile29Ser
XR_001744808.2:n.862T>G
XR_242246.5:n.1882T>G
NM_000466.3:c.1835T>G MANE Select NP_000457.1:p.Ile612Ser
NM_001282677.2:c.1835T>G NP_001269606.1:p.Ile612Ser
NM_001282678.2:c.1211T>G NP_001269607.1:p.Ile404Ser