Canonical Allele Identifier: CA16041161
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371726
ClinVar RCV Id: RCV000409232 RCV000411702
dbSNP Id: rs1057517489
MyVariant Identifiers: chr7:g.92136346C>A (hg19) chr7:g.92507032C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92507032C>A , CM000669.2:g.92507032C>A GRCh38
NC_000007.13:g.92136346C>A , CM000669.1:g.92136346C>A GRCh37
NC_000007.12:g.91974282C>A NCBI36
NG_008341.1:g.26500G>T
NG_008341.2:g.26500G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1765G>T MANE Select ENSP00000248633.4:p.Gly589Ter
ENST00000248633.8:c.1765G>T ENSP00000248633.4:p.Gly589Ter
ENST00000422866.1:c.583G>T
ENST00000428214.5:c.1765G>T ENSP00000394413.1:p.Gly589Ter
ENST00000438045.5:c.799G>T ENSP00000410438.1:p.Gly267Ter
ENST00000484913.5:n.1804G>T
ENST00000496420.5:n.792G>T
NM_000466.2:c.1765G>T NP_000457.1:p.Gly589Ter
NM_001282677.1:c.1765G>T NP_001269606.1:p.Gly589Ter
NM_001282678.1:c.1141G>T NP_001269607.1:p.Gly381Ter
XM_005250433.3:c.16G>T XP_005250490.1:p.Gly6Ter
XR_242246.3:n.1861G>T
XM_017012319.2:c.16G>T XP_016867808.1:p.Gly6Ter
XR_001744808.2:n.792G>T
XR_242246.5:n.1812G>T
NM_000466.3:c.1765G>T MANE Select NP_000457.1:p.Gly589Ter
NM_001282677.2:c.1765G>T NP_001269606.1:p.Gly589Ter
NM_001282678.2:c.1141G>T NP_001269607.1:p.Gly381Ter
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