Canonical Allele Identifier: CA456483157

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132379G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503065G>C , CM000669.2:g.92503065G>C	GRCh38
NC_000007.13:g.92132379G>C , CM000669.1:g.92132379G>C	GRCh37
NC_000007.12:g.91970315G>C	NCBI36
NG_008341.1:g.30467C>G
NG_008341.2:g.30467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2202C>G MANE Select	ENSP00000248633.4:p.Val734=
ENST00000248633.8:c.2202C>G	ENSP00000248633.4:p.Val734=
ENST00000428214.5:c.2031C>G	ENSP00000394413.1:p.Val677=
ENST00000438045.5:c.1236C>G	ENSP00000410438.1:p.Val412=
ENST00000484913.5:n.2241C>G
ENST00000496420.5:n.1878C>G
NM_000466.2:c.2202C>G	NP_000457.1:p.Val734=
NM_001282677.1:c.2031C>G	NP_001269606.1:p.Val677=
NM_001282678.1:c.1578C>G	NP_001269607.1:p.Val526=
XM_005250433.3:c.453C>G	XP_005250490.1:p.Val151=
XR_242246.3:n.2298C>G
XM_017012319.2:c.453C>G	XP_016867808.1:p.Val151=
XR_001744808.2:n.1229C>G
XR_242246.5:n.2249C>G
NM_000466.3:c.2202C>G MANE Select	NP_000457.1:p.Val734=
NM_001282677.2:c.2031C>G	NP_001269606.1:p.Val677=
NM_001282678.2:c.1578C>G	NP_001269607.1:p.Val526=