Canonical Allele Identifier: CA456482943
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92131295T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501981T>C , CM000669.2:g.92501981T>C GRCh38
NC_000007.13:g.92131295T>C , CM000669.1:g.92131295T>C GRCh37
NC_000007.12:g.91969231T>C NCBI36
NG_008341.1:g.31551A>G
NG_008341.2:g.31551A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2325A>G MANE Select ENSP00000248633.4:p.Glu775=
ENST00000248633.8:c.2325A>G ENSP00000248633.4:p.Glu775=
ENST00000428214.5:c.2154A>G ENSP00000394413.1:p.Glu718=
ENST00000438045.5:c.1359A>G ENSP00000410438.1:p.Glu453=
ENST00000484913.5:n.2364A>G
ENST00000496092.1:n.123A>G
ENST00000496420.5:n.2001A>G
NM_000466.2:c.2325A>G NP_000457.1:p.Glu775=
NM_001282677.1:c.2154A>G NP_001269606.1:p.Glu718=
NM_001282678.1:c.1701A>G NP_001269607.1:p.Glu567=
XM_005250433.3:c.576A>G XP_005250490.1:p.Glu192=
XR_242246.3:n.2421A>G
XM_017012319.2:c.576A>G XP_016867808.1:p.Glu192=
XR_001744808.2:n.1352A>G
XR_242246.5:n.2372A>G
NM_000466.3:c.2325A>G MANE Select NP_000457.1:p.Glu775=
NM_001282677.2:c.2154A>G NP_001269606.1:p.Glu718=
NM_001282678.2:c.1701A>G NP_001269607.1:p.Glu567=