Canonical Allele Identifier: CA16041146

Linked Data

ClinVar Variation Id: 371765
dbSNP Id: rs1057517518

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491503C>T , CM000669.2:g.92491503C>T GRCh38
NC_000007.13:g.92120817C>T , CM000669.1:g.92120817C>T GRCh37
NC_000007.12:g.91958753C>T NCBI36
NG_008341.1:g.42029G>A
NG_008341.2:g.42029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3208-1G>A (PEX1) MANE Select ENSP00000248633.4:p.=
ENST00000248633.8:c.3208-1G>A ENSP00000248633.4:p.=
ENST00000428214.5:n.3037-1G>A ENSP00000394413.1:p.=
ENST00000438045.5:c.2242-1G>A ENSP00000410438.1:p.=
ENST00000484913.5:n.3247-1G>A
ENST00000496420.5:n.4263-1G>A
NM_000466.2:c.3208-1G>A (PEX1) NP_000457.1:p.=
NM_001282677.1:c.3037-1G>A (PEX1) NP_001269606.1:p.=
NM_001282678.1:c.2584-1G>A (PEX1) NP_001269607.1:p.=
XM_005250433.3:c.1459-1G>A (PEX1) XP_005250490.1:p.=
XR_242246.3:n.3304-1G>A (PEX1)
XM_017012319.2:c.1459-1G>A (PEX1) XP_016867808.1:p.=
XR_001744808.2:n.2235-1G>A (PEX1)
XR_001744842.2:n.2541C>T (GATAD1)
XR_001744843.2:n.2472C>T (GATAD1)
XR_002956472.1:n.2598C>T (GATAD1)
XR_002956473.1:n.2629C>T (GATAD1)
XR_002956474.1:n.2546C>T (GATAD1)
XR_242246.5:n.3255-1G>A (PEX1)
XR_927494.3:n.1323C>T (GATAD1)
XR_927500.3:n.1320C>T (GATAD1)
XR_927503.3:n.1254C>T (GATAD1)
NM_000466.3:c.3208-1G>A (PEX1) MANE Select NP_000457.1:p.=
NM_001282677.2:c.3037-1G>A (PEX1) NP_001269606.1:p.=
NM_001282678.2:c.2584-1G>A (PEX1) NP_001269607.1:p.=