Canonical Allele Identifier: CA456483717

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1159250
• ClinVar RCV Id: RCV001502924
• dbSNP Id: rs2116205269
• MyVariant Identifiers: chr7:g.92140293A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510979A>G , CM000669.2:g.92510979A>G	GRCh38
NC_000007.13:g.92140293A>G , CM000669.1:g.92140293A>G	GRCh37
NC_000007.12:g.91978229A>G	NCBI36
NG_008341.1:g.22553T>C
NG_008341.2:g.22553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1552T>C MANE Select	ENSP00000248633.4:p.Leu518=
ENST00000248633.8:c.1552T>C	ENSP00000248633.4:p.Leu518=
ENST00000422866.1:c.453T>C
ENST00000428214.5:c.1552T>C	ENSP00000394413.1:p.Leu518=
ENST00000438045.5:c.586T>C	ENSP00000410438.1:p.Leu196=
ENST00000476923.1:n.313T>C
ENST00000484913.5:n.1591T>C
NM_000466.2:c.1552T>C	NP_000457.1:p.Leu518=
NM_001282677.1:c.1552T>C	NP_001269606.1:p.Leu518=
NM_001282678.1:c.928T>C	NP_001269607.1:p.Leu310=
XM_005250433.3:c.-115T>C	XP_005250490.1:n.-115T>C
XR_242246.3:n.1648T>C
XM_017012319.2:c.-115T>C	XP_016867808.1:n.-115T>C
XR_001744808.2:n.662T>C
XR_242246.5:n.1599T>C
NM_000466.3:c.1552T>C MANE Select	NP_000457.1:p.Leu518=
NM_001282677.2:c.1552T>C	NP_001269606.1:p.Leu518=
NM_001282678.2:c.928T>C	NP_001269607.1:p.Leu310=