Canonical Allele Identifier: CA368182745

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134048T>A (hg19) ; chr7:g.92504734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504734T>A , CM000669.2:g.92504734T>A	GRCh38
NC_000007.13:g.92134048T>A , CM000669.1:g.92134048T>A	GRCh37
NC_000007.12:g.91971984T>A	NCBI36
NG_008341.1:g.28798A>T
NG_008341.2:g.28798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2069A>T MANE Select	ENSP00000248633.4:p.His690Leu
ENST00000248633.8:c.2069A>T	ENSP00000248633.4:p.His690Leu
ENST00000428214.5:c.1900+1514A>T	ENSP00000394413.1:n.1900+1514A>T
ENST00000438045.5:c.1103A>T	ENSP00000410438.1:p.His368Leu
ENST00000484913.5:n.2108A>T
ENST00000496420.5:n.1745A>T
NM_000466.2:c.2069A>T	NP_000457.1:p.His690Leu
NM_001282677.1:c.1900+1514A>T	NP_001269606.1:n.1900+1514A>T
NM_001282678.1:c.1445A>T	NP_001269607.1:p.His482Leu
XM_005250433.3:c.320A>T	XP_005250490.1:p.His107Leu
XR_242246.3:n.2165A>T
XM_017012319.2:c.320A>T	XP_016867808.1:p.His107Leu
XR_001744808.2:n.1096A>T
XR_242246.5:n.2116A>T
NM_000466.3:c.2069A>T MANE Select	NP_000457.1:p.His690Leu
NM_001282677.2:c.1900+1514A>T	NP_001269606.1:n.1900+1514A>T
NM_001282678.2:c.1445A>T	NP_001269607.1:p.His482Leu