Canonical Allele Identifier: CA368202123
Gene: PEX1 HGNC NCBI

Linked Data

COSMIC: COSM3367071
MyVariant Identifiers: chr7:g.92147480T>A (hg19) chr7:g.92518166T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518166T>A , CM000669.2:g.92518166T>A GRCh38
NC_000007.13:g.92147480T>A , CM000669.1:g.92147480T>A GRCh37
NC_000007.12:g.91985416T>A NCBI36
NG_008341.1:g.15366A>T
NG_008341.2:g.15366A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.447A>T MANE Select ENSP00000248633.4:p.Gln149His
ENST00000248633.8:c.447A>T ENSP00000248633.4:p.Gln149His
ENST00000428214.5:c.447A>T ENSP00000394413.1:p.Gln149His
ENST00000438045.5:c.273+3936A>T ENSP00000410438.1:n.273+3936A>T
ENST00000484913.5:n.486A>T
NM_000466.2:c.447A>T NP_000457.1:p.Gln149His
NM_001282677.1:c.447A>T NP_001269606.1:p.Gln149His
NM_001282678.1:c.-178A>T NP_001269607.1:n.-178A>T
XR_242246.3:n.543A>T
XR_242246.5:n.494A>T
NM_000466.3:c.447A>T MANE Select NP_000457.1:p.Gln149His
NM_001282677.2:c.447A>T NP_001269606.1:p.Gln149His
NM_001282678.2:c.-178A>T NP_001269607.1:n.-178A>T
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