Canonical Allele Identifier: CA4341211

Gene: PEX1

Linked Data

• ClinVar Variation Id: 360925
• ClinVar RCV Id: RCV000326749
• dbSNP Id: rs150351763
• ExAC: 7:92132509 G / A
• gnomAD v2: 7-92132509-G-A
• gnomAD v4: 7-92503195-G-A
• MyVariant Identifiers: chr7:g.92132509G>A (hg19) ; chr7:g.92503195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503195G>A , CM000669.2:g.92503195G>A	GRCh38
NC_000007.13:g.92132509G>A , CM000669.1:g.92132509G>A	GRCh37
NC_000007.12:g.91970445G>A	NCBI36
NG_008341.1:g.30337C>T
NG_008341.2:g.30337C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2072C>T MANE Select	ENSP00000248633.4:p.Ala691Val
ENST00000248633.8:c.2072C>T	ENSP00000248633.4:p.Ala691Val
ENST00000428214.5:c.1901C>T	ENSP00000394413.1:p.Ala634Val
ENST00000438045.5:c.1106C>T	ENSP00000410438.1:p.Ala369Val
ENST00000484913.5:n.2111C>T
ENST00000496420.5:n.1748C>T
NM_000466.2:c.2072C>T	NP_000457.1:p.Ala691Val
NM_001282677.1:c.1901C>T	NP_001269606.1:p.Ala634Val
NM_001282678.1:c.1448C>T	NP_001269607.1:p.Ala483Val
XM_005250433.3:c.323C>T	XP_005250490.1:p.Ala108Val
XR_242246.3:n.2168C>T
XM_017012319.2:c.323C>T	XP_016867808.1:p.Ala108Val
XR_001744808.2:n.1099C>T
XR_242246.5:n.2119C>T
NM_000466.3:c.2072C>T MANE Select	NP_000457.1:p.Ala691Val
NM_001282677.2:c.1901C>T	NP_001269606.1:p.Ala634Val
NM_001282678.2:c.1448C>T	NP_001269607.1:p.Ala483Val