Canonical Allele Identifier: CA368177696

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131293G>T (hg19) ; chr7:g.92501979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501979G>T , CM000669.2:g.92501979G>T	GRCh38
NC_000007.13:g.92131293G>T , CM000669.1:g.92131293G>T	GRCh37
NC_000007.12:g.91969229G>T	NCBI36
NG_008341.1:g.31553C>A
NG_008341.2:g.31553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2327C>A MANE Select	ENSP00000248633.4:p.Thr776Asn
ENST00000248633.8:c.2327C>A	ENSP00000248633.4:p.Thr776Asn
ENST00000428214.5:c.2156C>A	ENSP00000394413.1:p.Thr719Asn
ENST00000438045.5:c.1361C>A	ENSP00000410438.1:p.Thr454Asn
ENST00000484913.5:n.2366C>A
ENST00000496092.1:n.125C>A
ENST00000496420.5:n.2003C>A
NM_000466.2:c.2327C>A	NP_000457.1:p.Thr776Asn
NM_001282677.1:c.2156C>A	NP_001269606.1:p.Thr719Asn
NM_001282678.1:c.1703C>A	NP_001269607.1:p.Thr568Asn
XM_005250433.3:c.578C>A	XP_005250490.1:p.Thr193Asn
XR_242246.3:n.2423C>A
XM_017012319.2:c.578C>A	XP_016867808.1:p.Thr193Asn
XR_001744808.2:n.1354C>A
XR_242246.5:n.2374C>A
NM_000466.3:c.2327C>A MANE Select	NP_000457.1:p.Thr776Asn
NM_001282677.2:c.2156C>A	NP_001269606.1:p.Thr719Asn
NM_001282678.2:c.1703C>A	NP_001269607.1:p.Thr568Asn