Canonical Allele Identifier: CA368183160
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504777G>C , CM000669.2:g.92504777G>C GRCh38
NC_000007.13:g.92134091G>C , CM000669.1:g.92134091G>C GRCh37
NC_000007.12:g.91972027G>C NCBI36
NG_008341.1:g.28755C>G
NG_008341.2:g.28755C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2026C>G MANE Select ENSP00000248633.4:p.His676Asp
ENST00000248633.8:c.2026C>G ENSP00000248633.4:p.His676Asp
ENST00000428214.5:c.1900+1471C>G ENSP00000394413.1:n.1900+1471C>G
ENST00000438045.5:c.1060C>G ENSP00000410438.1:p.His354Asp
ENST00000484913.5:n.2065C>G
ENST00000496420.5:n.1702C>G
NM_000466.2:c.2026C>G NP_000457.1:p.His676Asp
NM_001282677.1:c.1900+1471C>G NP_001269606.1:n.1900+1471C>G
NM_001282678.1:c.1402C>G NP_001269607.1:p.His468Asp
XM_005250433.3:c.277C>G XP_005250490.1:p.His93Asp
XR_242246.3:n.2122C>G
XM_017012319.2:c.277C>G XP_016867808.1:p.His93Asp
XR_001744808.2:n.1053C>G
XR_242246.5:n.2073C>G
NM_000466.3:c.2026C>G MANE Select NP_000457.1:p.His676Asp
NM_001282677.2:c.1900+1471C>G NP_001269606.1:n.1900+1471C>G
NM_001282678.2:c.1402C>G NP_001269607.1:p.His468Asp