Canonical Allele Identifier: CA368178577

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131365A>C (hg19) ; chr7:g.92502051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502051A>C , CM000669.2:g.92502051A>C	GRCh38
NC_000007.13:g.92131365A>C , CM000669.1:g.92131365A>C	GRCh37
NC_000007.12:g.91969301A>C	NCBI36
NG_008341.1:g.31481T>G
NG_008341.2:g.31481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2255T>G MANE Select	ENSP00000248633.4:p.Val752Gly
ENST00000248633.8:c.2255T>G	ENSP00000248633.4:p.Val752Gly
ENST00000428214.5:c.2084T>G	ENSP00000394413.1:p.Val695Gly
ENST00000438045.5:c.1289T>G	ENSP00000410438.1:p.Val430Gly
ENST00000484913.5:n.2294T>G
ENST00000496092.1:n.53T>G
ENST00000496420.5:n.1931T>G
NM_000466.2:c.2255T>G	NP_000457.1:p.Val752Gly
NM_001282677.1:c.2084T>G	NP_001269606.1:p.Val695Gly
NM_001282678.1:c.1631T>G	NP_001269607.1:p.Val544Gly
XM_005250433.3:c.506T>G	XP_005250490.1:p.Val169Gly
XR_242246.3:n.2351T>G
XM_017012319.2:c.506T>G	XP_016867808.1:p.Val169Gly
XR_001744808.2:n.1282T>G
XR_242246.5:n.2302T>G
NM_000466.3:c.2255T>G MANE Select	NP_000457.1:p.Val752Gly
NM_001282677.2:c.2084T>G	NP_001269606.1:p.Val695Gly
NM_001282678.2:c.1631T>G	NP_001269607.1:p.Val544Gly