Canonical Allele Identifier: CA368182940
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504755A>C , CM000669.2:g.92504755A>C GRCh38
NC_000007.13:g.92134069A>C , CM000669.1:g.92134069A>C GRCh37
NC_000007.12:g.91972005A>C NCBI36
NG_008341.1:g.28777T>G
NG_008341.2:g.28777T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2048T>G MANE Select ENSP00000248633.4:p.Val683Gly
ENST00000248633.8:c.2048T>G ENSP00000248633.4:p.Val683Gly
ENST00000428214.5:c.1900+1493T>G ENSP00000394413.1:n.1900+1493T>G
ENST00000438045.5:c.1082T>G ENSP00000410438.1:p.Val361Gly
ENST00000484913.5:n.2087T>G
ENST00000496420.5:n.1724T>G
NM_000466.2:c.2048T>G NP_000457.1:p.Val683Gly
NM_001282677.1:c.1900+1493T>G NP_001269606.1:n.1900+1493T>G
NM_001282678.1:c.1424T>G NP_001269607.1:p.Val475Gly
XM_005250433.3:c.299T>G XP_005250490.1:p.Val100Gly
XR_242246.3:n.2144T>G
XM_017012319.2:c.299T>G XP_016867808.1:p.Val100Gly
XR_001744808.2:n.1075T>G
XR_242246.5:n.2095T>G
NM_000466.3:c.2048T>G MANE Select NP_000457.1:p.Val683Gly
NM_001282677.2:c.1900+1493T>G NP_001269606.1:n.1900+1493T>G
NM_001282678.2:c.1424T>G NP_001269607.1:p.Val475Gly