Canonical Allele Identifier: CA4341519

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1979990
• ClinVar RCV Id: RCV002756288
• dbSNP Id: rs563671482
• ExAC: 7:92146909 T / G
• gnomAD v2: 7-92146909-T-G
• gnomAD v3: 7-92517595-T-G
• gnomAD v4: 7-92517595-T-G
• MyVariant Identifiers: chr7:g.92146909T>G (hg19) ; chr7:g.92517595T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.920A>C MANE Select	ENSP00000248633.4:p.His307Pro
ENST00000248633.8:c.920A>C	ENSP00000248633.4:p.His307Pro
ENST00000428214.5:c.920A>C	ENSP00000394413.1:p.His307Pro
ENST00000438045.5:c.274-3628A>C	ENSP00000410438.1:n.274-3628A>C
ENST00000484913.5:n.959A>C
NM_000466.2:c.920A>C	NP_000457.1:p.His307Pro
NM_001282677.1:c.920A>C	NP_001269606.1:p.His307Pro
NM_001282678.1:c.296A>C	NP_001269607.1:p.His99Pro
XR_242246.3:n.1016A>C
XM_017012319.2:c.-747A>C	XP_016867808.1:n.-747A>C
XR_001744808.2:n.30A>C
XR_242246.5:n.967A>C
NM_000466.3:c.920A>C MANE Select	NP_000457.1:p.His307Pro
NM_001282677.2:c.920A>C	NP_001269606.1:p.His307Pro
NM_001282678.2:c.296A>C	NP_001269607.1:p.His99Pro