Canonical Allele Identifier: CA4341158

Gene: PEX1

Linked Data

• ClinVar Variation Id: 909478
• ClinVar RCV Id: RCV001160554
• dbSNP Id: rs767182250
• ExAC: 7:92131314 A / G
• MyVariant Identifiers: chr7:g.92131314A>G (hg19) ; chr7:g.92502000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502000A>G , CM000669.2:g.92502000A>G	GRCh38
NC_000007.13:g.92131314A>G , CM000669.1:g.92131314A>G	GRCh37
NC_000007.12:g.91969250A>G	NCBI36
NG_008341.1:g.31532T>C
NG_008341.2:g.31532T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2306T>C MANE Select	ENSP00000248633.4:p.Leu769Pro
ENST00000248633.8:c.2306T>C	ENSP00000248633.4:p.Leu769Pro
ENST00000428214.5:c.2135T>C	ENSP00000394413.1:p.Leu712Pro
ENST00000438045.5:c.1340T>C	ENSP00000410438.1:p.Leu447Pro
ENST00000484913.5:n.2345T>C
ENST00000496092.1:n.104T>C
ENST00000496420.5:n.1982T>C
NM_000466.2:c.2306T>C	NP_000457.1:p.Leu769Pro
NM_001282677.1:c.2135T>C	NP_001269606.1:p.Leu712Pro
NM_001282678.1:c.1682T>C	NP_001269607.1:p.Leu561Pro
XM_005250433.3:c.557T>C	XP_005250490.1:p.Leu186Pro
XR_242246.3:n.2402T>C
XM_017012319.2:c.557T>C	XP_016867808.1:p.Leu186Pro
XR_001744808.2:n.1333T>C
XR_242246.5:n.2353T>C
NM_000466.3:c.2306T>C MANE Select	NP_000457.1:p.Leu769Pro
NM_001282677.2:c.2135T>C	NP_001269606.1:p.Leu712Pro
NM_001282678.2:c.1682T>C	NP_001269607.1:p.Leu561Pro