Canonical Allele Identifier: CA456482925

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1579123
• ClinVar RCV Id: RCV002093080
• dbSNP Id: rs2116148406
• MyVariant Identifiers: chr7:g.92131271A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501957A>G , CM000669.2:g.92501957A>G	GRCh38
NC_000007.13:g.92131271A>G , CM000669.1:g.92131271A>G	GRCh37
NC_000007.12:g.91969207A>G	NCBI36
NG_008341.1:g.31575T>C
NG_008341.2:g.31575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2349T>C MANE Select	ENSP00000248633.4:p.Asp783=
ENST00000248633.8:c.2349T>C	ENSP00000248633.4:p.Asp783=
ENST00000428214.5:c.2178T>C	ENSP00000394413.1:p.Asp726=
ENST00000438045.5:c.1383T>C	ENSP00000410438.1:p.Asp461=
ENST00000484913.5:n.2388T>C
ENST00000496092.1:n.147T>C
ENST00000496420.5:n.2025T>C
NM_000466.2:c.2349T>C	NP_000457.1:p.Asp783=
NM_001282677.1:c.2178T>C	NP_001269606.1:p.Asp726=
NM_001282678.1:c.1725T>C	NP_001269607.1:p.Asp575=
XM_005250433.3:c.600T>C	XP_005250490.1:p.Asp200=
XR_242246.3:n.2445T>C
XM_017012319.2:c.600T>C	XP_016867808.1:p.Asp200=
XR_001744808.2:n.1376T>C
XR_242246.5:n.2396T>C
NM_000466.3:c.2349T>C MANE Select	NP_000457.1:p.Asp783=
NM_001282677.2:c.2178T>C	NP_001269606.1:p.Asp726=
NM_001282678.2:c.1725T>C	NP_001269607.1:p.Asp575=