Canonical Allele Identifier: CA368181245

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132380A>G (hg19) ; chr7:g.92503066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503066A>G , CM000669.2:g.92503066A>G	GRCh38
NC_000007.13:g.92132380A>G , CM000669.1:g.92132380A>G	GRCh37
NC_000007.12:g.91970316A>G	NCBI36
NG_008341.1:g.30466T>C
NG_008341.2:g.30466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2201T>C MANE Select	ENSP00000248633.4:p.Val734Ala
ENST00000248633.8:c.2201T>C	ENSP00000248633.4:p.Val734Ala
ENST00000428214.5:c.2030T>C	ENSP00000394413.1:p.Val677Ala
ENST00000438045.5:c.1235T>C	ENSP00000410438.1:p.Val412Ala
ENST00000484913.5:n.2240T>C
ENST00000496420.5:n.1877T>C
NM_000466.2:c.2201T>C	NP_000457.1:p.Val734Ala
NM_001282677.1:c.2030T>C	NP_001269606.1:p.Val677Ala
NM_001282678.1:c.1577T>C	NP_001269607.1:p.Val526Ala
XM_005250433.3:c.452T>C	XP_005250490.1:p.Val151Ala
XR_242246.3:n.2297T>C
XM_017012319.2:c.452T>C	XP_016867808.1:p.Val151Ala
XR_001744808.2:n.1228T>C
XR_242246.5:n.2248T>C
NM_000466.3:c.2201T>C MANE Select	NP_000457.1:p.Val734Ala
NM_001282677.2:c.2030T>C	NP_001269606.1:p.Val677Ala
NM_001282678.2:c.1577T>C	NP_001269607.1:p.Val526Ala