Canonical Allele Identifier: CA368178078

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131321G>C (hg19) ; chr7:g.92502007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502007G>C , CM000669.2:g.92502007G>C	GRCh38
NC_000007.13:g.92131321G>C , CM000669.1:g.92131321G>C	GRCh37
NC_000007.12:g.91969257G>C	NCBI36
NG_008341.1:g.31525C>G
NG_008341.2:g.31525C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2299C>G MANE Select	ENSP00000248633.4:p.Leu767Val
ENST00000248633.8:c.2299C>G	ENSP00000248633.4:p.Leu767Val
ENST00000428214.5:c.2128C>G	ENSP00000394413.1:p.Leu710Val
ENST00000438045.5:c.1333C>G	ENSP00000410438.1:p.Leu445Val
ENST00000484913.5:n.2338C>G
ENST00000496092.1:n.97C>G
ENST00000496420.5:n.1975C>G
NM_000466.2:c.2299C>G	NP_000457.1:p.Leu767Val
NM_001282677.1:c.2128C>G	NP_001269606.1:p.Leu710Val
NM_001282678.1:c.1675C>G	NP_001269607.1:p.Leu559Val
XM_005250433.3:c.550C>G	XP_005250490.1:p.Leu184Val
XR_242246.3:n.2395C>G
XM_017012319.2:c.550C>G	XP_016867808.1:p.Leu184Val
XR_001744808.2:n.1326C>G
XR_242246.5:n.2346C>G
NM_000466.3:c.2299C>G MANE Select	NP_000457.1:p.Leu767Val
NM_001282677.2:c.2128C>G	NP_001269606.1:p.Leu710Val
NM_001282678.2:c.1675C>G	NP_001269607.1:p.Leu559Val