Canonical Allele Identifier: CA368200761

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147191A>T (hg19) ; chr7:g.92517877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517877A>T , CM000669.2:g.92517877A>T	GRCh38
NC_000007.13:g.92147191A>T , CM000669.1:g.92147191A>T	GRCh37
NC_000007.12:g.91985127A>T	NCBI36
NG_008341.1:g.15655T>A
NG_008341.2:g.15655T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.638T>A MANE Select	ENSP00000248633.4:p.Leu213His
ENST00000248633.8:c.638T>A	ENSP00000248633.4:p.Leu213His
ENST00000428214.5:c.638T>A	ENSP00000394413.1:p.Leu213His
ENST00000438045.5:c.274-3910T>A	ENSP00000410438.1:n.274-3910T>A
ENST00000484913.5:n.677T>A
NM_000466.2:c.638T>A	NP_000457.1:p.Leu213His
NM_001282677.1:c.638T>A	NP_001269606.1:p.Leu213His
NM_001282678.1:c.14T>A	NP_001269607.1:p.Leu5His
XR_242246.3:n.734T>A
XR_242246.5:n.685T>A
NM_000466.3:c.638T>A MANE Select	NP_000457.1:p.Leu213His
NM_001282677.2:c.638T>A	NP_001269606.1:p.Leu213His
NM_001282678.2:c.14T>A	NP_001269607.1:p.Leu5His