Canonical Allele Identifier: CA456483216

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132463A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503149A>C , CM000669.2:g.92503149A>C	GRCh38
NC_000007.13:g.92132463A>C , CM000669.1:g.92132463A>C	GRCh37
NC_000007.12:g.91970399A>C	NCBI36
NG_008341.1:g.30383T>G
NG_008341.2:g.30383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2118T>G MANE Select	ENSP00000248633.4:p.Val706=
ENST00000248633.8:c.2118T>G	ENSP00000248633.4:p.Val706=
ENST00000428214.5:c.1947T>G	ENSP00000394413.1:p.Val649=
ENST00000438045.5:c.1152T>G	ENSP00000410438.1:p.Val384=
ENST00000484913.5:n.2157T>G
ENST00000496420.5:n.1794T>G
NM_000466.2:c.2118T>G	NP_000457.1:p.Val706=
NM_001282677.1:c.1947T>G	NP_001269606.1:p.Val649=
NM_001282678.1:c.1494T>G	NP_001269607.1:p.Val498=
XM_005250433.3:c.369T>G	XP_005250490.1:p.Val123=
XR_242246.3:n.2214T>G
XM_017012319.2:c.369T>G	XP_016867808.1:p.Val123=
XR_001744808.2:n.1145T>G
XR_242246.5:n.2165T>G
NM_000466.3:c.2118T>G MANE Select	NP_000457.1:p.Val706=
NM_001282677.2:c.1947T>G	NP_001269606.1:p.Val649=
NM_001282678.2:c.1494T>G	NP_001269607.1:p.Val498=