Canonical Allele Identifier: CA456482918

Gene: PEX1

Linked Data

• dbSNP Id: rs1585231693
• MyVariant Identifiers: chr7:g.92131262T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501948T>G , CM000669.2:g.92501948T>G	GRCh38
NC_000007.13:g.92131262T>G , CM000669.1:g.92131262T>G	GRCh37
NC_000007.12:g.91969198T>G	NCBI36
NG_008341.1:g.31584A>C
NG_008341.2:g.31584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2358A>C MANE Select	ENSP00000248633.4:p.Val786=
ENST00000248633.8:c.2358A>C	ENSP00000248633.4:p.Val786=
ENST00000428214.5:c.2187A>C	ENSP00000394413.1:p.Val729=
ENST00000438045.5:c.1392A>C	ENSP00000410438.1:p.Val464=
ENST00000484913.5:n.2397A>C
ENST00000496092.1:n.156A>C
ENST00000496420.5:n.2034A>C
NM_000466.2:c.2358A>C	NP_000457.1:p.Val786=
NM_001282677.1:c.2187A>C	NP_001269606.1:p.Val729=
NM_001282678.1:c.1734A>C	NP_001269607.1:p.Val578=
XM_005250433.3:c.609A>C	XP_005250490.1:p.Val203=
XR_242246.3:n.2454A>C
XM_017012319.2:c.609A>C	XP_016867808.1:p.Val203=
XR_001744808.2:n.1385A>C
XR_242246.5:n.2405A>C
NM_000466.3:c.2358A>C MANE Select	NP_000457.1:p.Val786=
NM_001282677.2:c.2187A>C	NP_001269606.1:p.Val729=
NM_001282678.2:c.1734A>C	NP_001269607.1:p.Val578=