Canonical Allele Identifier: CA456483384

Gene: PEX1

Linked Data

• dbSNP Id: rs1792106736
• MyVariant Identifiers: chr7:g.92134164T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504850T>G , CM000669.2:g.92504850T>G	GRCh38
NC_000007.13:g.92134164T>G , CM000669.1:g.92134164T>G	GRCh37
NC_000007.12:g.91972100T>G	NCBI36
NG_008341.1:g.28682A>C
NG_008341.2:g.28682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1953A>C MANE Select	ENSP00000248633.4:p.Ala651=
ENST00000248633.8:c.1953A>C	ENSP00000248633.4:p.Ala651=
ENST00000428214.5:c.1900+1398A>C	ENSP00000394413.1:n.1900+1398A>C
ENST00000438045.5:c.987A>C	ENSP00000410438.1:p.Ala329=
ENST00000484913.5:n.1992A>C
ENST00000496420.5:n.1629A>C
NM_000466.2:c.1953A>C	NP_000457.1:p.Ala651=
NM_001282677.1:c.1900+1398A>C	NP_001269606.1:n.1900+1398A>C
NM_001282678.1:c.1329A>C	NP_001269607.1:p.Ala443=
XM_005250433.3:c.204A>C	XP_005250490.1:p.Ala68=
XR_242246.3:n.2049A>C
XM_017012319.2:c.204A>C	XP_016867808.1:p.Ala68=
XR_001744808.2:n.980A>C
XR_242246.5:n.2000A>C
NM_000466.3:c.1953A>C MANE Select	NP_000457.1:p.Ala651=
NM_001282677.2:c.1900+1398A>C	NP_001269606.1:n.1900+1398A>C
NM_001282678.2:c.1329A>C	NP_001269607.1:p.Ala443=