Canonical Allele Identifier: CA16041147

Linked Data

ClinVar Variation Id: 371784
dbSNP Id: rs1057517531

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494398T>C , CM000669.2:g.92494398T>C GRCh38
NC_000007.13:g.92123712T>C , CM000669.1:g.92123712T>C GRCh37
NC_000007.12:g.91961648T>C NCBI36
NG_008341.1:g.39134A>G
NG_008341.2:g.39134A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2927-2A>G (PEX1) MANE Select ENSP00000248633.4:p.=
ENST00000248633.8:c.2927-2A>G ENSP00000248633.4:p.=
ENST00000428214.5:n.2756-2A>G ENSP00000394413.1:p.=
ENST00000438045.5:c.1961-2A>G ENSP00000410438.1:p.=
ENST00000484913.5:n.2966-2A>G
ENST00000496420.5:n.2819-2A>G
NM_000466.2:c.2927-2A>G (PEX1) NP_000457.1:p.=
NM_001282677.1:c.2756-2A>G (PEX1) NP_001269606.1:p.=
NM_001282678.1:c.2303-2A>G (PEX1) NP_001269607.1:p.=
XM_005250433.3:c.1178-2A>G (PEX1) XP_005250490.1:p.=
XR_242246.3:n.3023-2A>G (PEX1)
XM_017012319.2:c.1178-2A>G (PEX1) XP_016867808.1:p.=
XR_001744808.2:n.1954-2A>G (PEX1)
XR_001744843.2:n.5367T>C (GATAD1)
XR_242246.5:n.2974-2A>G (PEX1)
XR_927494.3:n.4218T>C (GATAD1)
XR_927503.3:n.4149T>C (GATAD1)
NM_000466.3:c.2927-2A>G (PEX1) MANE Select NP_000457.1:p.=
NM_001282677.2:c.2756-2A>G (PEX1) NP_001269606.1:p.=
NM_001282678.2:c.2303-2A>G (PEX1) NP_001269607.1:p.=