Canonical Allele Identifier: CA368168156

Linked Data

dbSNP Id: rs1313389882
gnomAD v2: 7-92123809-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494495C>A , CM000669.2:g.92494495C>A GRCh38
NC_000007.13:g.92123809C>A , CM000669.1:g.92123809C>A GRCh37
NC_000007.12:g.91961745C>A NCBI36
NG_008341.1:g.39037G>T
NG_008341.2:g.39037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2918G>T (PEX1) MANE Select ENSP00000248633.4:p.Gly973Val
ENST00000248633.8:c.2918G>T (PEX1) ENSP00000248633.4:p.Gly973Val
ENST00000428214.5:c.2747G>T (PEX1) ENSP00000394413.1:p.Gly916Val
ENST00000438045.5:c.1952G>T (PEX1) ENSP00000410438.1:p.Gly651Val
ENST00000484913.5:n.2957G>T (PEX1)
ENST00000496420.5:n.2810G>T (PEX1)
NM_000466.2:c.2918G>T (PEX1) NP_000457.1:p.Gly973Val
NM_001282677.1:c.2747G>T (PEX1) NP_001269606.1:p.Gly916Val
NM_001282678.1:c.2294G>T (PEX1) NP_001269607.1:p.Gly765Val
XM_005250433.3:c.1169G>T (PEX1) XP_005250490.1:p.Gly390Val
XR_242246.3:n.3014G>T (PEX1)
XM_017012319.2:c.1169G>T (PEX1) XP_016867808.1:p.Gly390Val
XR_001744808.2:n.1945G>T (PEX1)
XR_001744843.2:n.5464C>A (GATAD1)
XR_242246.5:n.2965G>T (PEX1)
XR_927494.3:n.4315C>A (GATAD1)
XR_927503.3:n.4246C>A (GATAD1)
NM_000466.3:c.2918G>T (PEX1) MANE Select NP_000457.1:p.Gly973Val
NM_001282677.2:c.2747G>T (PEX1) NP_001269606.1:p.Gly916Val
NM_001282678.2:c.2294G>T (PEX1) NP_001269607.1:p.Gly765Val