Canonical Allele Identifier: CA368199582
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92147001C>G (hg19) chr7:g.92517687C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517687C>G , CM000669.2:g.92517687C>G GRCh38
NC_000007.13:g.92147001C>G , CM000669.1:g.92147001C>G GRCh37
NC_000007.12:g.91984937C>G NCBI36
NG_008341.1:g.15845G>C
NG_008341.2:g.15845G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.828G>C MANE Select ENSP00000248633.4:p.Met276Ile
ENST00000248633.8:c.828G>C ENSP00000248633.4:p.Met276Ile
ENST00000428214.5:c.828G>C ENSP00000394413.1:p.Met276Ile
ENST00000438045.5:c.274-3720G>C ENSP00000410438.1:n.274-3720G>C
ENST00000484913.5:n.867G>C
NM_000466.2:c.828G>C NP_000457.1:p.Met276Ile
NM_001282677.1:c.828G>C NP_001269606.1:p.Met276Ile
NM_001282678.1:c.204G>C NP_001269607.1:p.Met68Ile
XR_242246.3:n.924G>C
XR_242246.5:n.875G>C
NM_000466.3:c.828G>C MANE Select NP_000457.1:p.Met276Ile
NM_001282677.2:c.828G>C NP_001269606.1:p.Met276Ile
NM_001282678.2:c.204G>C NP_001269607.1:p.Met68Ile
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