Canonical Allele Identifier: CA368199013

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146912A>T (hg19) ; chr7:g.92517598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517598A>T , CM000669.2:g.92517598A>T	GRCh38
NC_000007.13:g.92146912A>T , CM000669.1:g.92146912A>T	GRCh37
NC_000007.12:g.91984848A>T	NCBI36
NG_008341.1:g.15934T>A
NG_008341.2:g.15934T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.917T>A MANE Select	ENSP00000248633.4:p.Phe306Tyr
ENST00000248633.8:c.917T>A	ENSP00000248633.4:p.Phe306Tyr
ENST00000428214.5:c.917T>A	ENSP00000394413.1:p.Phe306Tyr
ENST00000438045.5:c.274-3631T>A	ENSP00000410438.1:n.274-3631T>A
ENST00000484913.5:n.956T>A
NM_000466.2:c.917T>A	NP_000457.1:p.Phe306Tyr
NM_001282677.1:c.917T>A	NP_001269606.1:p.Phe306Tyr
NM_001282678.1:c.293T>A	NP_001269607.1:p.Phe98Tyr
XR_242246.3:n.1013T>A
XM_017012319.2:c.-750T>A	XP_016867808.1:n.-750T>A
XR_001744808.2:n.27T>A
XR_242246.5:n.964T>A
NM_000466.3:c.917T>A MANE Select	NP_000457.1:p.Phe306Tyr
NM_001282677.2:c.917T>A	NP_001269606.1:p.Phe306Tyr
NM_001282678.2:c.293T>A	NP_001269607.1:p.Phe98Tyr