Canonical Allele Identifier: CA456483721

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140296G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510982G>A , CM000669.2:g.92510982G>A	GRCh38
NC_000007.13:g.92140296G>A , CM000669.1:g.92140296G>A	GRCh37
NC_000007.12:g.91978232G>A	NCBI36
NG_008341.1:g.22550C>T
NG_008341.2:g.22550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1549C>T MANE Select	ENSP00000248633.4:p.Leu517=
ENST00000248633.8:c.1549C>T	ENSP00000248633.4:p.Leu517=
ENST00000422866.1:c.450C>T
ENST00000428214.5:c.1549C>T	ENSP00000394413.1:p.Leu517=
ENST00000438045.5:c.583C>T	ENSP00000410438.1:p.Leu195=
ENST00000476923.1:n.310C>T
ENST00000484913.5:n.1588C>T
NM_000466.2:c.1549C>T	NP_000457.1:p.Leu517=
NM_001282677.1:c.1549C>T	NP_001269606.1:p.Leu517=
NM_001282678.1:c.925C>T	NP_001269607.1:p.Leu309=
XM_005250433.3:c.-118C>T	XP_005250490.1:n.-118C>T
XR_242246.3:n.1645C>T
XM_017012319.2:c.-118C>T	XP_016867808.1:n.-118C>T
XR_001744808.2:n.659C>T
XR_242246.5:n.1596C>T
NM_000466.3:c.1549C>T MANE Select	NP_000457.1:p.Leu517=
NM_001282677.2:c.1549C>T	NP_001269606.1:p.Leu517=
NM_001282678.2:c.925C>T	NP_001269607.1:p.Leu309=