Canonical Allele Identifier: CA368197099

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2169295
• ClinVar RCV Id: RCV003084752
• gnomAD v4: 7-92517301-T-G
• MyVariant Identifiers: chr7:g.92146615T>G (hg19) ; chr7:g.92517301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517301T>G , CM000669.2:g.92517301T>G	GRCh38
NC_000007.13:g.92146615T>G , CM000669.1:g.92146615T>G	GRCh37
NC_000007.12:g.91984551T>G	NCBI36
NG_008341.1:g.16231A>C
NG_008341.2:g.16231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1214A>C MANE Select	ENSP00000248633.4:p.Glu405Ala
ENST00000248633.8:c.1214A>C	ENSP00000248633.4:p.Glu405Ala
ENST00000422866.1:c.115A>C
ENST00000428214.5:c.1214A>C	ENSP00000394413.1:p.Glu405Ala
ENST00000438045.5:c.274-3334A>C	ENSP00000410438.1:n.274-3334A>C
ENST00000484913.5:n.1253A>C
NM_000466.2:c.1214A>C	NP_000457.1:p.Glu405Ala
NM_001282677.1:c.1214A>C	NP_001269606.1:p.Glu405Ala
NM_001282678.1:c.590A>C	NP_001269607.1:p.Glu197Ala
XR_242246.3:n.1310A>C
XM_017012319.2:c.-453A>C	XP_016867808.1:n.-453A>C
XR_001744808.2:n.324A>C
XR_242246.5:n.1261A>C
NM_000466.3:c.1214A>C MANE Select	NP_000457.1:p.Glu405Ala
NM_001282677.2:c.1214A>C	NP_001269606.1:p.Glu405Ala
NM_001282678.2:c.590A>C	NP_001269607.1:p.Glu197Ala