Canonical Allele Identifier: CA368200274
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517790A>C , CM000669.2:g.92517790A>C GRCh38
NC_000007.13:g.92147104A>C , CM000669.1:g.92147104A>C GRCh37
NC_000007.12:g.91985040A>C NCBI36
NG_008341.1:g.15742T>G
NG_008341.2:g.15742T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.725T>G MANE Select ENSP00000248633.4:p.Val242Gly
ENST00000248633.8:c.725T>G ENSP00000248633.4:p.Val242Gly
ENST00000428214.5:c.725T>G ENSP00000394413.1:p.Val242Gly
ENST00000438045.5:c.274-3823T>G ENSP00000410438.1:n.274-3823T>G
ENST00000484913.5:n.764T>G
NM_000466.2:c.725T>G NP_000457.1:p.Val242Gly
NM_001282677.1:c.725T>G NP_001269606.1:p.Val242Gly
NM_001282678.1:c.101T>G NP_001269607.1:p.Val34Gly
XR_242246.3:n.821T>G
XR_242246.5:n.772T>G
NM_000466.3:c.725T>G MANE Select NP_000457.1:p.Val242Gly
NM_001282677.2:c.725T>G NP_001269606.1:p.Val242Gly
NM_001282678.2:c.101T>G NP_001269607.1:p.Val34Gly