Canonical Allele Identifier: CA456483389

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134170T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504856T>A , CM000669.2:g.92504856T>A	GRCh38
NC_000007.13:g.92134170T>A , CM000669.1:g.92134170T>A	GRCh37
NC_000007.12:g.91972106T>A	NCBI36
NG_008341.1:g.28676A>T
NG_008341.2:g.28676A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1947A>T MANE Select	ENSP00000248633.4:p.Ser649=
ENST00000248633.8:c.1947A>T	ENSP00000248633.4:p.Ser649=
ENST00000428214.5:c.1900+1392A>T	ENSP00000394413.1:n.1900+1392A>T
ENST00000438045.5:c.981A>T	ENSP00000410438.1:p.Ser327=
ENST00000484913.5:n.1986A>T
ENST00000496420.5:n.1623A>T
NM_000466.2:c.1947A>T	NP_000457.1:p.Ser649=
NM_001282677.1:c.1900+1392A>T	NP_001269606.1:n.1900+1392A>T
NM_001282678.1:c.1323A>T	NP_001269607.1:p.Ser441=
XM_005250433.3:c.198A>T	XP_005250490.1:p.Ser66=
XR_242246.3:n.2043A>T
XM_017012319.2:c.198A>T	XP_016867808.1:p.Ser66=
XR_001744808.2:n.974A>T
XR_242246.5:n.1994A>T
NM_000466.3:c.1947A>T MANE Select	NP_000457.1:p.Ser649=
NM_001282677.2:c.1900+1392A>T	NP_001269606.1:n.1900+1392A>T
NM_001282678.2:c.1323A>T	NP_001269607.1:p.Ser441=