Canonical Allele Identifier: CA368182182

Gene: PEX1

Linked Data

• ClinVar Variation Id: 990546
• ClinVar RCV Id: RCV001278591
• dbSNP Id: rs1792018651
• MyVariant Identifiers: chr7:g.92132495T>C (hg19) ; chr7:g.92503181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503181T>C , CM000669.2:g.92503181T>C	GRCh38
NC_000007.13:g.92132495T>C , CM000669.1:g.92132495T>C	GRCh37
NC_000007.12:g.91970431T>C	NCBI36
NG_008341.1:g.30351A>G
NG_008341.2:g.30351A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2086A>G MANE Select	ENSP00000248633.4:p.Ile696Val
ENST00000248633.8:c.2086A>G	ENSP00000248633.4:p.Ile696Val
ENST00000428214.5:c.1915A>G	ENSP00000394413.1:p.Ile639Val
ENST00000438045.5:c.1120A>G	ENSP00000410438.1:p.Ile374Val
ENST00000484913.5:n.2125A>G
ENST00000496420.5:n.1762A>G
NM_000466.2:c.2086A>G	NP_000457.1:p.Ile696Val
NM_001282677.1:c.1915A>G	NP_001269606.1:p.Ile639Val
NM_001282678.1:c.1462A>G	NP_001269607.1:p.Ile488Val
XM_005250433.3:c.337A>G	XP_005250490.1:p.Ile113Val
XR_242246.3:n.2182A>G
XM_017012319.2:c.337A>G	XP_016867808.1:p.Ile113Val
XR_001744808.2:n.1113A>G
XR_242246.5:n.2133A>G
NM_000466.3:c.2086A>G MANE Select	NP_000457.1:p.Ile696Val
NM_001282677.2:c.1915A>G	NP_001269606.1:p.Ile639Val
NM_001282678.2:c.1462A>G	NP_001269607.1:p.Ile488Val