Canonical Allele Identifier: CA368185219

Gene: PEX1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506316G>A , CM000669.2:g.92506316G>A	GRCh38
NC_000007.13:g.92135630G>A , CM000669.1:g.92135630G>A	GRCh37
NC_000007.12:g.91973566G>A	NCBI36
NG_008341.1:g.27216C>T
NG_008341.2:g.27216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1832C>T MANE Select	ENSP00000248633.4:p.Ala611Val
ENST00000248633.8:c.1832C>T	ENSP00000248633.4:p.Ala611Val
ENST00000422866.1:c.650C>T
ENST00000428214.5:c.1832C>T	ENSP00000394413.1:p.Ala611Val
ENST00000438045.5:c.866C>T	ENSP00000410438.1:p.Ala289Val
ENST00000484913.5:n.1871C>T
ENST00000496420.5:n.1508C>T
NM_000466.2:c.1832C>T	NP_000457.1:p.Ala611Val
NM_001282677.1:c.1832C>T	NP_001269606.1:p.Ala611Val
NM_001282678.1:c.1208C>T	NP_001269607.1:p.Ala403Val
XM_005250433.3:c.83C>T	XP_005250490.1:p.Ala28Val
XR_242246.3:n.1928C>T
XM_017012319.2:c.83C>T	XP_016867808.1:p.Ala28Val
XR_001744808.2:n.859C>T
XR_242246.5:n.1879C>T
NM_000466.3:c.1832C>T MANE Select	NP_000457.1:p.Ala611Val
NM_001282677.2:c.1832C>T	NP_001269606.1:p.Ala611Val
NM_001282678.2:c.1208C>T	NP_001269607.1:p.Ala403Val