Canonical Allele Identifier: CA456482999

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1141480
• ClinVar RCV Id: RCV001478926
• dbSNP Id: rs2116149299
• MyVariant Identifiers: chr7:g.92131379T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502065T>C , CM000669.2:g.92502065T>C	GRCh38
NC_000007.13:g.92131379T>C , CM000669.1:g.92131379T>C	GRCh37
NC_000007.12:g.91969315T>C	NCBI36
NG_008341.1:g.31467A>G
NG_008341.2:g.31467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2241A>G MANE Select	ENSP00000248633.4:p.Glu747=
ENST00000248633.8:c.2241A>G	ENSP00000248633.4:p.Glu747=
ENST00000428214.5:c.2070A>G	ENSP00000394413.1:p.Glu690=
ENST00000438045.5:c.1275A>G	ENSP00000410438.1:p.Glu425=
ENST00000484913.5:n.2280A>G
ENST00000496092.1:n.39A>G
ENST00000496420.5:n.1917A>G
NM_000466.2:c.2241A>G	NP_000457.1:p.Glu747=
NM_001282677.1:c.2070A>G	NP_001269606.1:p.Glu690=
NM_001282678.1:c.1617A>G	NP_001269607.1:p.Glu539=
XM_005250433.3:c.492A>G	XP_005250490.1:p.Glu164=
XR_242246.3:n.2337A>G
XM_017012319.2:c.492A>G	XP_016867808.1:p.Glu164=
XR_001744808.2:n.1268A>G
XR_242246.5:n.2288A>G
NM_000466.3:c.2241A>G MANE Select	NP_000457.1:p.Glu747=
NM_001282677.2:c.2070A>G	NP_001269606.1:p.Glu690=
NM_001282678.2:c.1617A>G	NP_001269607.1:p.Glu539=