Canonical Allele Identifier: CA368183149
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504776T>C , CM000669.2:g.92504776T>C GRCh38
NC_000007.13:g.92134090T>C , CM000669.1:g.92134090T>C GRCh37
NC_000007.12:g.91972026T>C NCBI36
NG_008341.1:g.28756A>G
NG_008341.2:g.28756A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2027A>G MANE Select ENSP00000248633.4:p.His676Arg
ENST00000248633.8:c.2027A>G ENSP00000248633.4:p.His676Arg
ENST00000428214.5:n.1900+1472A>G ENSP00000394413.1:p.=
ENST00000438045.5:c.1061A>G ENSP00000410438.1:p.His354Arg
ENST00000484913.5:n.2066A>G
ENST00000496420.5:n.1703A>G
NM_000466.2:c.2027A>G NP_000457.1:p.His676Arg
NM_001282677.1:c.1900+1472A>G NP_001269606.1:p.=
NM_001282678.1:c.1403A>G NP_001269607.1:p.His468Arg
XM_005250433.3:c.278A>G XP_005250490.1:p.His93Arg
XR_242246.3:n.2123A>G
XM_017012319.2:c.278A>G XP_016867808.1:p.His93Arg
XR_001744808.2:n.1054A>G
XR_242246.5:n.2074A>G
NM_000466.3:c.2027A>G MANE Select NP_000457.1:p.His676Arg
NM_001282677.2:c.1900+1472A>G NP_001269606.1:p.=
NM_001282678.2:c.1403A>G NP_001269607.1:p.His468Arg