Canonical Allele Identifier: CA368184973

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1392915
• ClinVar RCV Id: RCV001896455
• dbSNP Id: rs762766482
• gnomAD v2: 7-92135611-A-T
• gnomAD v3: 7-92506297-A-T
• gnomAD v4: 7-92506297-A-T
• MyVariant Identifiers: chr7:g.92135611A>T (hg19) ; chr7:g.92506297A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506297A>T , CM000669.2:g.92506297A>T	GRCh38
NC_000007.13:g.92135611A>T , CM000669.1:g.92135611A>T	GRCh37
NC_000007.12:g.91973547A>T	NCBI36
NG_008341.1:g.27235T>A
NG_008341.2:g.27235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1851T>A MANE Select	ENSP00000248633.4:p.Phe617Leu
ENST00000248633.8:c.1851T>A	ENSP00000248633.4:p.Phe617Leu
ENST00000422866.1:c.669T>A
ENST00000428214.5:c.1851T>A	ENSP00000394413.1:p.Phe617Leu
ENST00000438045.5:c.885T>A	ENSP00000410438.1:p.Phe295Leu
ENST00000484913.5:n.1890T>A
ENST00000496420.5:n.1527T>A
NM_000466.2:c.1851T>A	NP_000457.1:p.Phe617Leu
NM_001282677.1:c.1851T>A	NP_001269606.1:p.Phe617Leu
NM_001282678.1:c.1227T>A	NP_001269607.1:p.Phe409Leu
XM_005250433.3:c.102T>A	XP_005250490.1:p.Phe34Leu
XR_242246.3:n.1947T>A
XM_017012319.2:c.102T>A	XP_016867808.1:p.Phe34Leu
XR_001744808.2:n.878T>A
XR_242246.5:n.1898T>A
NM_000466.3:c.1851T>A MANE Select	NP_000457.1:p.Phe617Leu
NM_001282677.2:c.1851T>A	NP_001269606.1:p.Phe617Leu
NM_001282678.2:c.1227T>A	NP_001269607.1:p.Phe409Leu