Canonical Allele Identifier: CA368177701
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92131294T>A (hg19) chr7:g.92501980T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501980T>A , CM000669.2:g.92501980T>A GRCh38
NC_000007.13:g.92131294T>A , CM000669.1:g.92131294T>A GRCh37
NC_000007.12:g.91969230T>A NCBI36
NG_008341.1:g.31552A>T
NG_008341.2:g.31552A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2326A>T MANE Select ENSP00000248633.4:p.Thr776Ser
ENST00000248633.8:c.2326A>T ENSP00000248633.4:p.Thr776Ser
ENST00000428214.5:c.2155A>T ENSP00000394413.1:p.Thr719Ser
ENST00000438045.5:c.1360A>T ENSP00000410438.1:p.Thr454Ser
ENST00000484913.5:n.2365A>T
ENST00000496092.1:n.124A>T
ENST00000496420.5:n.2002A>T
NM_000466.2:c.2326A>T NP_000457.1:p.Thr776Ser
NM_001282677.1:c.2155A>T NP_001269606.1:p.Thr719Ser
NM_001282678.1:c.1702A>T NP_001269607.1:p.Thr568Ser
XM_005250433.3:c.577A>T XP_005250490.1:p.Thr193Ser
XR_242246.3:n.2422A>T
XM_017012319.2:c.577A>T XP_016867808.1:p.Thr193Ser
XR_001744808.2:n.1353A>T
XR_242246.5:n.2373A>T
NM_000466.3:c.2326A>T MANE Select NP_000457.1:p.Thr776Ser
NM_001282677.2:c.2155A>T NP_001269606.1:p.Thr719Ser
NM_001282678.2:c.1702A>T NP_001269607.1:p.Thr568Ser
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