Canonical Allele Identifier: CA456483488

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135608G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506294G>A , CM000669.2:g.92506294G>A	GRCh38
NC_000007.13:g.92135608G>A , CM000669.1:g.92135608G>A	GRCh37
NC_000007.12:g.91973544G>A	NCBI36
NG_008341.1:g.27238C>T
NG_008341.2:g.27238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1854C>T MANE Select	ENSP00000248633.4:p.Asp618=
ENST00000248633.8:c.1854C>T	ENSP00000248633.4:p.Asp618=
ENST00000422866.1:c.672C>T
ENST00000428214.5:c.1854C>T	ENSP00000394413.1:p.Asp618=
ENST00000438045.5:c.888C>T	ENSP00000410438.1:p.Asp296=
ENST00000484913.5:n.1893C>T
ENST00000496420.5:n.1530C>T
NM_000466.2:c.1854C>T	NP_000457.1:p.Asp618=
NM_001282677.1:c.1854C>T	NP_001269606.1:p.Asp618=
NM_001282678.1:c.1230C>T	NP_001269607.1:p.Asp410=
XM_005250433.3:c.105C>T	XP_005250490.1:p.Asp35=
XR_242246.3:n.1950C>T
XM_017012319.2:c.105C>T	XP_016867808.1:p.Asp35=
XR_001744808.2:n.881C>T
XR_242246.5:n.1901C>T
NM_000466.3:c.1854C>T MANE Select	NP_000457.1:p.Asp618=
NM_001282677.2:c.1854C>T	NP_001269606.1:p.Asp618=
NM_001282678.2:c.1230C>T	NP_001269607.1:p.Asp410=