Canonical Allele Identifier: CA368202106
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92147477T>G (hg19) chr7:g.92518163T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518163T>G , CM000669.2:g.92518163T>G GRCh38
NC_000007.13:g.92147477T>G , CM000669.1:g.92147477T>G GRCh37
NC_000007.12:g.91985413T>G NCBI36
NG_008341.1:g.15369A>C
NG_008341.2:g.15369A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.450A>C MANE Select ENSP00000248633.4:p.Gln150His
ENST00000248633.8:c.450A>C ENSP00000248633.4:p.Gln150His
ENST00000428214.5:c.450A>C ENSP00000394413.1:p.Gln150His
ENST00000438045.5:c.273+3939A>C ENSP00000410438.1:n.273+3939A>C
ENST00000484913.5:n.489A>C
NM_000466.2:c.450A>C NP_000457.1:p.Gln150His
NM_001282677.1:c.450A>C NP_001269606.1:p.Gln150His
NM_001282678.1:c.-175A>C NP_001269607.1:n.-175A>C
XR_242246.3:n.546A>C
XR_242246.5:n.497A>C
NM_000466.3:c.450A>C MANE Select NP_000457.1:p.Gln150His
NM_001282677.2:c.450A>C NP_001269606.1:p.Gln150His
NM_001282678.2:c.-175A>C NP_001269607.1:n.-175A>C
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