Canonical Allele Identifier: CA368187218

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92136325A>T (hg19) ; chr7:g.92507011A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507011A>T , CM000669.2:g.92507011A>T	GRCh38
NC_000007.13:g.92136325A>T , CM000669.1:g.92136325A>T	GRCh37
NC_000007.12:g.91974261A>T	NCBI36
NG_008341.1:g.26521T>A
NG_008341.2:g.26521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1786T>A MANE Select	ENSP00000248633.4:p.Leu596Ile
ENST00000248633.8:c.1786T>A	ENSP00000248633.4:p.Leu596Ile
ENST00000422866.1:c.604T>A
ENST00000428214.5:c.1786T>A	ENSP00000394413.1:p.Leu596Ile
ENST00000438045.5:c.820T>A	ENSP00000410438.1:p.Leu274Ile
ENST00000484913.5:n.1825T>A
ENST00000496420.5:n.813T>A
NM_000466.2:c.1786T>A	NP_000457.1:p.Leu596Ile
NM_001282677.1:c.1786T>A	NP_001269606.1:p.Leu596Ile
NM_001282678.1:c.1162T>A	NP_001269607.1:p.Leu388Ile
XM_005250433.3:c.37T>A	XP_005250490.1:p.Leu13Ile
XR_242246.3:n.1882T>A
XM_017012319.2:c.37T>A	XP_016867808.1:p.Leu13Ile
XR_001744808.2:n.813T>A
XR_242246.5:n.1833T>A
NM_000466.3:c.1786T>A MANE Select	NP_000457.1:p.Leu596Ile
NM_001282677.2:c.1786T>A	NP_001269606.1:p.Leu596Ile
NM_001282678.2:c.1162T>A	NP_001269607.1:p.Leu388Ile