Canonical Allele Identifier: CA368171220

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1715940
• ClinVar RCV Id: RCV002295739
• MyVariant Identifiers: chr7:g.92126084T>C (hg19) ; chr7:g.92496770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496770T>C , CM000669.2:g.92496770T>C	GRCh38
NC_000007.13:g.92126084T>C , CM000669.1:g.92126084T>C	GRCh37
NC_000007.12:g.91964020T>C	NCBI36
NG_008341.1:g.36762A>G
NG_008341.2:g.36762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2726A>G MANE Select	ENSP00000248633.4:p.Glu909Gly
ENST00000248633.8:c.2726A>G	ENSP00000248633.4:p.Glu909Gly
ENST00000428214.5:c.2555A>G	ENSP00000394413.1:p.Glu852Gly
ENST00000438045.5:c.1760A>G	ENSP00000410438.1:p.Glu587Gly
ENST00000484913.5:n.2765A>G
ENST00000496420.5:n.2618A>G
NM_000466.2:c.2726A>G	NP_000457.1:p.Glu909Gly
NM_001282677.1:c.2555A>G	NP_001269606.1:p.Glu852Gly
NM_001282678.1:c.2102A>G	NP_001269607.1:p.Glu701Gly
XM_005250433.3:c.977A>G	XP_005250490.1:p.Glu326Gly
XR_242246.3:n.2822A>G
XM_017012319.2:c.977A>G	XP_016867808.1:p.Glu326Gly
XR_001744808.2:n.1753A>G
XR_242246.5:n.2773A>G
NM_000466.3:c.2726A>G MANE Select	NP_000457.1:p.Glu909Gly
NM_001282677.2:c.2555A>G	NP_001269606.1:p.Glu852Gly
NM_001282678.2:c.2102A>G	NP_001269607.1:p.Glu701Gly