Canonical Allele Identifier: CA456483490

Gene: PEX1

Linked Data

• dbSNP Id: rs1200340306
• gnomAD v4: 7-92506300-T-C
• MyVariant Identifiers: chr7:g.92135614T>C (hg19) ; chr7:g.92506300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506300T>C , CM000669.2:g.92506300T>C	GRCh38
NC_000007.13:g.92135614T>C , CM000669.1:g.92135614T>C	GRCh37
NC_000007.12:g.91973550T>C	NCBI36
NG_008341.1:g.27232A>G
NG_008341.2:g.27232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1848A>G MANE Select	ENSP00000248633.4:p.Ala616=
ENST00000248633.8:c.1848A>G	ENSP00000248633.4:p.Ala616=
ENST00000422866.1:c.666A>G
ENST00000428214.5:c.1848A>G	ENSP00000394413.1:p.Ala616=
ENST00000438045.5:c.882A>G	ENSP00000410438.1:p.Ala294=
ENST00000484913.5:n.1887A>G
ENST00000496420.5:n.1524A>G
NM_000466.2:c.1848A>G	NP_000457.1:p.Ala616=
NM_001282677.1:c.1848A>G	NP_001269606.1:p.Ala616=
NM_001282678.1:c.1224A>G	NP_001269607.1:p.Ala408=
XM_005250433.3:c.99A>G	XP_005250490.1:p.Ala33=
XR_242246.3:n.1944A>G
XM_017012319.2:c.99A>G	XP_016867808.1:p.Ala33=
XR_001744808.2:n.875A>G
XR_242246.5:n.1895A>G
NM_000466.3:c.1848A>G MANE Select	NP_000457.1:p.Ala616=
NM_001282677.2:c.1848A>G	NP_001269606.1:p.Ala616=
NM_001282678.2:c.1224A>G	NP_001269607.1:p.Ala408=