Canonical Allele Identifier: CA161964654

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2731403
• ClinVar RCV Id: RCV003595535
• dbSNP Id: rs921615253
• gnomAD v4: 7-92504793-C-G
• MyVariant Identifiers: chr7:g.92134107C>G (hg19) ; chr7:g.92504793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504793C>G , CM000669.2:g.92504793C>G	GRCh38
NC_000007.13:g.92134107C>G , CM000669.1:g.92134107C>G	GRCh37
NC_000007.12:g.91972043C>G	NCBI36
NG_008341.1:g.28739G>C
NG_008341.2:g.28739G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2010G>C MANE Select	ENSP00000248633.4:p.Leu670=
ENST00000248633.8:c.2010G>C	ENSP00000248633.4:p.Leu670=
ENST00000428214.5:c.1900+1455G>C	ENSP00000394413.1:n.1900+1455G>C
ENST00000438045.5:c.1044G>C	ENSP00000410438.1:p.Leu348=
ENST00000484913.5:n.2049G>C
ENST00000496420.5:n.1686G>C
NM_000466.2:c.2010G>C	NP_000457.1:p.Leu670=
NM_001282677.1:c.1900+1455G>C	NP_001269606.1:n.1900+1455G>C
NM_001282678.1:c.1386G>C	NP_001269607.1:p.Leu462=
XM_005250433.3:c.261G>C	XP_005250490.1:p.Leu87=
XR_242246.3:n.2106G>C
XM_017012319.2:c.261G>C	XP_016867808.1:p.Leu87=
XR_001744808.2:n.1037G>C
XR_242246.5:n.2057G>C
NM_000466.3:c.2010G>C MANE Select	NP_000457.1:p.Leu670=
NM_001282677.2:c.1900+1455G>C	NP_001269606.1:n.1900+1455G>C
NM_001282678.2:c.1386G>C	NP_001269607.1:p.Leu462=