Canonical Allele Identifier: CA368183910

Gene: PEX1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504858A>T , CM000669.2:g.92504858A>T	GRCh38
NC_000007.13:g.92134172A>T , CM000669.1:g.92134172A>T	GRCh37
NC_000007.12:g.91972108A>T	NCBI36
NG_008341.1:g.28674T>A
NG_008341.2:g.28674T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1945T>A MANE Select	ENSP00000248633.4:p.Ser649Thr
ENST00000248633.8:c.1945T>A	ENSP00000248633.4:p.Ser649Thr
ENST00000428214.5:c.1900+1390T>A	ENSP00000394413.1:n.1900+1390T>A
ENST00000438045.5:c.979T>A	ENSP00000410438.1:p.Ser327Thr
ENST00000484913.5:n.1984T>A
ENST00000496420.5:n.1621T>A
NM_000466.2:c.1945T>A	NP_000457.1:p.Ser649Thr
NM_001282677.1:c.1900+1390T>A	NP_001269606.1:n.1900+1390T>A
NM_001282678.1:c.1321T>A	NP_001269607.1:p.Ser441Thr
XM_005250433.3:c.196T>A	XP_005250490.1:p.Ser66Thr
XR_242246.3:n.2041T>A
XM_017012319.2:c.196T>A	XP_016867808.1:p.Ser66Thr
XR_001744808.2:n.972T>A
XR_242246.5:n.1992T>A
NM_000466.3:c.1945T>A MANE Select	NP_000457.1:p.Ser649Thr
NM_001282677.2:c.1900+1390T>A	NP_001269606.1:n.1900+1390T>A
NM_001282678.2:c.1321T>A	NP_001269607.1:p.Ser441Thr