Canonical Allele Identifier: CA368198989

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2140798
• ClinVar RCV Id: RCV003073786
• gnomAD v4: 7-92517595-T-C
• MyVariant Identifiers: chr7:g.92146909T>C (hg19) ; chr7:g.92517595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517595T>C , CM000669.2:g.92517595T>C	GRCh38
NC_000007.13:g.92146909T>C , CM000669.1:g.92146909T>C	GRCh37
NC_000007.12:g.91984845T>C	NCBI36
NG_008341.1:g.15937A>G
NG_008341.2:g.15937A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.920A>G MANE Select	ENSP00000248633.4:p.His307Arg
ENST00000248633.8:c.920A>G	ENSP00000248633.4:p.His307Arg
ENST00000428214.5:c.920A>G	ENSP00000394413.1:p.His307Arg
ENST00000438045.5:c.274-3628A>G	ENSP00000410438.1:n.274-3628A>G
ENST00000484913.5:n.959A>G
NM_000466.2:c.920A>G	NP_000457.1:p.His307Arg
NM_001282677.1:c.920A>G	NP_001269606.1:p.His307Arg
NM_001282678.1:c.296A>G	NP_001269607.1:p.His99Arg
XR_242246.3:n.1016A>G
XM_017012319.2:c.-747A>G	XP_016867808.1:n.-747A>G
XR_001744808.2:n.30A>G
XR_242246.5:n.967A>G
NM_000466.3:c.920A>G MANE Select	NP_000457.1:p.His307Arg
NM_001282677.2:c.920A>G	NP_001269606.1:p.His307Arg
NM_001282678.2:c.296A>G	NP_001269607.1:p.His99Arg