Canonical Allele Identifier: CA368182089

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132484A>C (hg19) ; chr7:g.92503170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503170A>C , CM000669.2:g.92503170A>C	GRCh38
NC_000007.13:g.92132484A>C , CM000669.1:g.92132484A>C	GRCh37
NC_000007.12:g.91970420A>C	NCBI36
NG_008341.1:g.30362T>G
NG_008341.2:g.30362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2097T>G MANE Select	ENSP00000248633.4:p.Phe699Leu
ENST00000248633.8:c.2097T>G	ENSP00000248633.4:p.Phe699Leu
ENST00000428214.5:c.1926T>G	ENSP00000394413.1:p.Phe642Leu
ENST00000438045.5:c.1131T>G	ENSP00000410438.1:p.Phe377Leu
ENST00000484913.5:n.2136T>G
ENST00000496420.5:n.1773T>G
NM_000466.2:c.2097T>G	NP_000457.1:p.Phe699Leu
NM_001282677.1:c.1926T>G	NP_001269606.1:p.Phe642Leu
NM_001282678.1:c.1473T>G	NP_001269607.1:p.Phe491Leu
XM_005250433.3:c.348T>G	XP_005250490.1:p.Phe116Leu
XR_242246.3:n.2193T>G
XM_017012319.2:c.348T>G	XP_016867808.1:p.Phe116Leu
XR_001744808.2:n.1124T>G
XR_242246.5:n.2144T>G
NM_000466.3:c.2097T>G MANE Select	NP_000457.1:p.Phe699Leu
NM_001282677.2:c.1926T>G	NP_001269606.1:p.Phe642Leu
NM_001282678.2:c.1473T>G	NP_001269607.1:p.Phe491Leu