Canonical Allele Identifier: CA154229

Gene: PEX1

Linked Data

• ClinVar Variation Id: 129882
• ClinVar RCV Id: RCV000117900 ; RCV000288096 ; RCV000992519
• dbSNP Id: rs35996821
• ExAC: 7:92132493 T / C
• gnomAD: 7:92132493 T / C
• MyVariant Identifiers: chr7:g.92132493T>C (hg19) ; chr7:g.92503179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503179T>C , CM000669.2:g.92503179T>C	GRCh38
NC_000007.13:g.92132493T>C , CM000669.1:g.92132493T>C	GRCh37
NC_000007.12:g.91970429T>C	NCBI36
NG_008341.1:g.30353A>G
NG_008341.2:g.30353A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2088A>G MANE Select	ENSP00000248633.4:p.Ile696Met
ENST00000248633.8:c.2088A>G	ENSP00000248633.4:p.Ile696Met
ENST00000428214.5:n.1917A>G	ENSP00000394413.1:p.Ile639Met
ENST00000438045.5:c.1122A>G	ENSP00000410438.1:p.Ile374Met
ENST00000484913.5:n.2127A>G
ENST00000496420.5:n.1764A>G
NM_000466.2:c.2088A>G	NP_000457.1:p.Ile696Met
NM_001282677.1:c.1917A>G	NP_001269606.1:p.Ile639Met
NM_001282678.1:c.1464A>G	NP_001269607.1:p.Ile488Met
XM_005250433.3:c.339A>G	XP_005250490.1:p.Ile113Met
XR_242246.3:n.2184A>G
XM_017012319.2:c.339A>G	XP_016867808.1:p.Ile113Met
XR_001744808.2:n.1115A>G
XR_242246.5:n.2135A>G
NM_000466.3:c.2088A>G MANE Select	NP_000457.1:p.Ile696Met
NM_001282677.2:c.1917A>G	NP_001269606.1:p.Ile639Met
NM_001282678.2:c.1464A>G	NP_001269607.1:p.Ile488Met