Canonical Allele Identifier: CA4341154

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1142346
• ClinVar RCV Id: RCV001480143
• dbSNP Id: rs763463570
• ExAC: 7:92131307 A / G
• gnomAD v2: 7-92131307-A-G
• gnomAD v4: 7-92501993-A-G
• MyVariant Identifiers: chr7:g.92131307A>G (hg19) ; chr7:g.92501993A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501993A>G , CM000669.2:g.92501993A>G	GRCh38
NC_000007.13:g.92131307A>G , CM000669.1:g.92131307A>G	GRCh37
NC_000007.12:g.91969243A>G	NCBI36
NG_008341.1:g.31539T>C
NG_008341.2:g.31539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2313T>C MANE Select	ENSP00000248633.4:p.His771=
ENST00000248633.8:c.2313T>C	ENSP00000248633.4:p.His771=
ENST00000428214.5:c.2142T>C	ENSP00000394413.1:p.His714=
ENST00000438045.5:c.1347T>C	ENSP00000410438.1:p.His449=
ENST00000484913.5:n.2352T>C
ENST00000496092.1:n.111T>C
ENST00000496420.5:n.1989T>C
NM_000466.2:c.2313T>C	NP_000457.1:p.His771=
NM_001282677.1:c.2142T>C	NP_001269606.1:p.His714=
NM_001282678.1:c.1689T>C	NP_001269607.1:p.His563=
XM_005250433.3:c.564T>C	XP_005250490.1:p.His188=
XR_242246.3:n.2409T>C
XM_017012319.2:c.564T>C	XP_016867808.1:p.His188=
XR_001744808.2:n.1340T>C
XR_242246.5:n.2360T>C
NM_000466.3:c.2313T>C MANE Select	NP_000457.1:p.His771=
NM_001282677.2:c.2142T>C	NP_001269606.1:p.His714=
NM_001282678.2:c.1689T>C	NP_001269607.1:p.His563=