Canonical Allele Identifier: CA456483248

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134047A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504733A>G , CM000669.2:g.92504733A>G	GRCh38
NC_000007.13:g.92134047A>G , CM000669.1:g.92134047A>G	GRCh37
NC_000007.12:g.91971983A>G	NCBI36
NG_008341.1:g.28799T>C
NG_008341.2:g.28799T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2070T>C MANE Select	ENSP00000248633.4:p.His690=
ENST00000248633.8:c.2070T>C	ENSP00000248633.4:p.His690=
ENST00000428214.5:c.1900+1515T>C	ENSP00000394413.1:n.1900+1515T>C
ENST00000438045.5:c.1104T>C	ENSP00000410438.1:p.His368=
ENST00000484913.5:n.2109T>C
ENST00000496420.5:n.1746T>C
NM_000466.2:c.2070T>C	NP_000457.1:p.His690=
NM_001282677.1:c.1900+1515T>C	NP_001269606.1:n.1900+1515T>C
NM_001282678.1:c.1446T>C	NP_001269607.1:p.His482=
XM_005250433.3:c.321T>C	XP_005250490.1:p.His107=
XR_242246.3:n.2166T>C
XM_017012319.2:c.321T>C	XP_016867808.1:p.His107=
XR_001744808.2:n.1097T>C
XR_242246.5:n.2117T>C
NM_000466.3:c.2070T>C MANE Select	NP_000457.1:p.His690=
NM_001282677.2:c.1900+1515T>C	NP_001269606.1:n.1900+1515T>C
NM_001282678.2:c.1446T>C	NP_001269607.1:p.His482=