Canonical Allele Identifier: CA368178390

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131346G>C (hg19) ; chr7:g.92502032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502032G>C , CM000669.2:g.92502032G>C	GRCh38
NC_000007.13:g.92131346G>C , CM000669.1:g.92131346G>C	GRCh37
NC_000007.12:g.91969282G>C	NCBI36
NG_008341.1:g.31500C>G
NG_008341.2:g.31500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2274C>G MANE Select	ENSP00000248633.4:p.Asp758Glu
ENST00000248633.8:c.2274C>G	ENSP00000248633.4:p.Asp758Glu
ENST00000428214.5:c.2103C>G	ENSP00000394413.1:p.Asp701Glu
ENST00000438045.5:c.1308C>G	ENSP00000410438.1:p.Asp436Glu
ENST00000484913.5:n.2313C>G
ENST00000496092.1:n.72C>G
ENST00000496420.5:n.1950C>G
NM_000466.2:c.2274C>G	NP_000457.1:p.Asp758Glu
NM_001282677.1:c.2103C>G	NP_001269606.1:p.Asp701Glu
NM_001282678.1:c.1650C>G	NP_001269607.1:p.Asp550Glu
XM_005250433.3:c.525C>G	XP_005250490.1:p.Asp175Glu
XR_242246.3:n.2370C>G
XM_017012319.2:c.525C>G	XP_016867808.1:p.Asp175Glu
XR_001744808.2:n.1301C>G
XR_242246.5:n.2321C>G
NM_000466.3:c.2274C>G MANE Select	NP_000457.1:p.Asp758Glu
NM_001282677.2:c.2103C>G	NP_001269606.1:p.Asp701Glu
NM_001282678.2:c.1650C>G	NP_001269607.1:p.Asp550Glu