Canonical Allele Identifier: CA368198723

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146858A>T (hg19) ; chr7:g.92517544A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517544A>T , CM000669.2:g.92517544A>T	GRCh38
NC_000007.13:g.92146858A>T , CM000669.1:g.92146858A>T	GRCh37
NC_000007.12:g.91984794A>T	NCBI36
NG_008341.1:g.15988T>A
NG_008341.2:g.15988T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.971T>A MANE Select	ENSP00000248633.4:p.Val324Glu
ENST00000248633.8:c.971T>A	ENSP00000248633.4:p.Val324Glu
ENST00000428214.5:c.971T>A	ENSP00000394413.1:p.Val324Glu
ENST00000438045.5:c.274-3577T>A	ENSP00000410438.1:n.274-3577T>A
ENST00000484913.5:n.1010T>A
NM_000466.2:c.971T>A	NP_000457.1:p.Val324Glu
NM_001282677.1:c.971T>A	NP_001269606.1:p.Val324Glu
NM_001282678.1:c.347T>A	NP_001269607.1:p.Val116Glu
XR_242246.3:n.1067T>A
XM_017012319.2:c.-696T>A	XP_016867808.1:n.-696T>A
XR_001744808.2:n.81T>A
XR_242246.5:n.1018T>A
NM_000466.3:c.971T>A MANE Select	NP_000457.1:p.Val324Glu
NM_001282677.2:c.971T>A	NP_001269606.1:p.Val324Glu
NM_001282678.2:c.347T>A	NP_001269607.1:p.Val116Glu