Canonical Allele Identifier: CA368187112

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726968
• ClinVar RCV Id: RCV002308443
• MyVariant Identifiers: chr7:g.92136310T>A (hg19) ; chr7:g.92506996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506996T>A , CM000669.2:g.92506996T>A	GRCh38
NC_000007.13:g.92136310T>A , CM000669.1:g.92136310T>A	GRCh37
NC_000007.12:g.91974246T>A	NCBI36
NG_008341.1:g.26536A>T
NG_008341.2:g.26536A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1801A>T MANE Select	ENSP00000248633.4:p.Lys601Ter
ENST00000248633.8:c.1801A>T	ENSP00000248633.4:p.Lys601Ter
ENST00000422866.1:c.619A>T
ENST00000428214.5:c.1801A>T	ENSP00000394413.1:p.Lys601Ter
ENST00000438045.5:c.835A>T	ENSP00000410438.1:p.Lys279Ter
ENST00000484913.5:n.1840A>T
ENST00000496420.5:n.828A>T
NM_000466.2:c.1801A>T	NP_000457.1:p.Lys601Ter
NM_001282677.1:c.1801A>T	NP_001269606.1:p.Lys601Ter
NM_001282678.1:c.1177A>T	NP_001269607.1:p.Lys393Ter
XM_005250433.3:c.52A>T	XP_005250490.1:p.Lys18Ter
XR_242246.3:n.1897A>T
XM_017012319.2:c.52A>T	XP_016867808.1:p.Lys18Ter
XR_001744808.2:n.828A>T
XR_242246.5:n.1848A>T
NM_000466.3:c.1801A>T MANE Select	NP_000457.1:p.Lys601Ter
NM_001282677.2:c.1801A>T	NP_001269606.1:p.Lys601Ter
NM_001282678.2:c.1177A>T	NP_001269607.1:p.Lys393Ter