Canonical Allele Identifier: CA368182764

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134052C>T (hg19) ; chr7:g.92504738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504738C>T , CM000669.2:g.92504738C>T	GRCh38
NC_000007.13:g.92134052C>T , CM000669.1:g.92134052C>T	GRCh37
NC_000007.12:g.91971988C>T	NCBI36
NG_008341.1:g.28794G>A
NG_008341.2:g.28794G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2065G>A MANE Select	ENSP00000248633.4:p.Ala689Thr
ENST00000248633.8:c.2065G>A	ENSP00000248633.4:p.Ala689Thr
ENST00000428214.5:c.1900+1510G>A	ENSP00000394413.1:n.1900+1510G>A
ENST00000438045.5:c.1099G>A	ENSP00000410438.1:p.Ala367Thr
ENST00000484913.5:n.2104G>A
ENST00000496420.5:n.1741G>A
NM_000466.2:c.2065G>A	NP_000457.1:p.Ala689Thr
NM_001282677.1:c.1900+1510G>A	NP_001269606.1:n.1900+1510G>A
NM_001282678.1:c.1441G>A	NP_001269607.1:p.Ala481Thr
XM_005250433.3:c.316G>A	XP_005250490.1:p.Ala106Thr
XR_242246.3:n.2161G>A
XM_017012319.2:c.316G>A	XP_016867808.1:p.Ala106Thr
XR_001744808.2:n.1092G>A
XR_242246.5:n.2112G>A
NM_000466.3:c.2065G>A MANE Select	NP_000457.1:p.Ala689Thr
NM_001282677.2:c.1900+1510G>A	NP_001269606.1:n.1900+1510G>A
NM_001282678.2:c.1441G>A	NP_001269607.1:p.Ala481Thr