Canonical Allele Identifier: CA368202865

Gene: PEX1

Linked Data

• dbSNP Id: rs1792933649
• gnomAD v3: 7-92519001-C-A
• gnomAD v4: 7-92519001-C-A
• MyVariant Identifiers: chr7:g.92148315C>A (hg19) ; chr7:g.92519001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519001C>A , CM000669.2:g.92519001C>A	GRCh38
NC_000007.13:g.92148315C>A , CM000669.1:g.92148315C>A	GRCh37
NC_000007.12:g.91986251C>A	NCBI36
NG_008341.1:g.14531G>T
NG_008341.2:g.14531G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.351G>T MANE Select	ENSP00000248633.4:p.Glu117Asp
ENST00000248633.8:c.351G>T	ENSP00000248633.4:p.Glu117Asp
ENST00000428214.5:c.351G>T	ENSP00000394413.1:p.Glu117Asp
ENST00000438045.5:c.273+3101G>T	ENSP00000410438.1:n.273+3101G>T
ENST00000484913.5:n.355G>T
NM_000466.2:c.351G>T	NP_000457.1:p.Glu117Asp
NM_001282677.1:c.351G>T	NP_001269606.1:p.Glu117Asp
NM_001282678.1:c.-309G>T	NP_001269607.1:n.-309G>T
XR_242246.3:n.447G>T
XR_242246.5:n.398G>T
NM_000466.3:c.351G>T MANE Select	NP_000457.1:p.Glu117Asp
NM_001282677.2:c.351G>T	NP_001269606.1:p.Glu117Asp
NM_001282678.2:c.-309G>T	NP_001269607.1:n.-309G>T