Canonical Allele Identifier: CA456483739
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92140336T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511022T>G , CM000669.2:g.92511022T>G GRCh38
NC_000007.13:g.92140336T>G , CM000669.1:g.92140336T>G GRCh37
NC_000007.12:g.91978272T>G NCBI36
NG_008341.1:g.22510A>C
NG_008341.2:g.22510A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1509A>C MANE Select ENSP00000248633.4:p.Ile503=
ENST00000248633.8:c.1509A>C ENSP00000248633.4:p.Ile503=
ENST00000422866.1:c.410A>C
ENST00000428214.5:c.1509A>C ENSP00000394413.1:p.Ile503=
ENST00000438045.5:c.543A>C ENSP00000410438.1:p.Ile181=
ENST00000476923.1:n.270A>C
ENST00000484913.5:n.1548A>C
NM_000466.2:c.1509A>C NP_000457.1:p.Ile503=
NM_001282677.1:c.1509A>C NP_001269606.1:p.Ile503=
NM_001282678.1:c.885A>C NP_001269607.1:p.Ile295=
XM_005250433.3:c.-158A>C XP_005250490.1:n.-158A>C
XR_242246.3:n.1605A>C
XM_017012319.2:c.-158A>C XP_016867808.1:n.-158A>C
XR_001744808.2:n.619A>C
XR_242246.5:n.1556A>C
NM_000466.3:c.1509A>C MANE Select NP_000457.1:p.Ile503=
NM_001282677.2:c.1509A>C NP_001269606.1:p.Ile503=
NM_001282678.2:c.885A>C NP_001269607.1:p.Ile295=