Canonical Allele Identifier: CA368182754

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134051G>C (hg19) ; chr7:g.92504737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504737G>C , CM000669.2:g.92504737G>C	GRCh38
NC_000007.13:g.92134051G>C , CM000669.1:g.92134051G>C	GRCh37
NC_000007.12:g.91971987G>C	NCBI36
NG_008341.1:g.28795C>G
NG_008341.2:g.28795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2066C>G MANE Select	ENSP00000248633.4:p.Ala689Gly
ENST00000248633.8:c.2066C>G	ENSP00000248633.4:p.Ala689Gly
ENST00000428214.5:c.1900+1511C>G	ENSP00000394413.1:n.1900+1511C>G
ENST00000438045.5:c.1100C>G	ENSP00000410438.1:p.Ala367Gly
ENST00000484913.5:n.2105C>G
ENST00000496420.5:n.1742C>G
NM_000466.2:c.2066C>G	NP_000457.1:p.Ala689Gly
NM_001282677.1:c.1900+1511C>G	NP_001269606.1:n.1900+1511C>G
NM_001282678.1:c.1442C>G	NP_001269607.1:p.Ala481Gly
XM_005250433.3:c.317C>G	XP_005250490.1:p.Ala106Gly
XR_242246.3:n.2162C>G
XM_017012319.2:c.317C>G	XP_016867808.1:p.Ala106Gly
XR_001744808.2:n.1093C>G
XR_242246.5:n.2113C>G
NM_000466.3:c.2066C>G MANE Select	NP_000457.1:p.Ala689Gly
NM_001282677.2:c.1900+1511C>G	NP_001269606.1:n.1900+1511C>G
NM_001282678.2:c.1442C>G	NP_001269607.1:p.Ala481Gly