Canonical Allele Identifier: CA456482898

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131238A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501924A>C , CM000669.2:g.92501924A>C	GRCh38
NC_000007.13:g.92131238A>C , CM000669.1:g.92131238A>C	GRCh37
NC_000007.12:g.91969174A>C	NCBI36
NG_008341.1:g.31608T>G
NG_008341.2:g.31608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2382T>G MANE Select	ENSP00000248633.4:p.Ser794=
ENST00000248633.8:c.2382T>G	ENSP00000248633.4:p.Ser794=
ENST00000428214.5:c.2211T>G	ENSP00000394413.1:p.Ser737=
ENST00000438045.5:c.1416T>G	ENSP00000410438.1:p.Ser472=
ENST00000484913.5:n.2421T>G
ENST00000496092.1:n.180T>G
ENST00000496420.5:n.2058T>G
NM_000466.2:c.2382T>G	NP_000457.1:p.Ser794=
NM_001282677.1:c.2211T>G	NP_001269606.1:p.Ser737=
NM_001282678.1:c.1758T>G	NP_001269607.1:p.Ser586=
XM_005250433.3:c.633T>G	XP_005250490.1:p.Ser211=
XR_242246.3:n.2478T>G
XM_017012319.2:c.633T>G	XP_016867808.1:p.Ser211=
XR_001744808.2:n.1409T>G
XR_242246.5:n.2429T>G
NM_000466.3:c.2382T>G MANE Select	NP_000457.1:p.Ser794=
NM_001282677.2:c.2211T>G	NP_001269606.1:p.Ser737=
NM_001282678.2:c.1758T>G	NP_001269607.1:p.Ser586=