Canonical Allele Identifier: CA4340951

Linked Data

dbSNP Id: rs752085471
gnomAD v2: 7-92123692-G-C
gnomAD v4: 7-92494378-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494378G>C , CM000669.2:g.92494378G>C GRCh38
NC_000007.13:g.92123692G>C , CM000669.1:g.92123692G>C GRCh37
NC_000007.12:g.91961628G>C NCBI36
NG_008341.1:g.39154C>G
NG_008341.2:g.39154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2945C>G (PEX1) MANE Select ENSP00000248633.4:p.Ala982Gly
ENST00000248633.8:c.2945C>G (PEX1) ENSP00000248633.4:p.Ala982Gly
ENST00000428214.5:c.2774C>G (PEX1) ENSP00000394413.1:p.Ala925Gly
ENST00000438045.5:c.1979C>G (PEX1) ENSP00000410438.1:p.Ala660Gly
ENST00000484913.5:n.2984C>G (PEX1)
ENST00000496420.5:n.2837C>G (PEX1)
NM_000466.2:c.2945C>G (PEX1) NP_000457.1:p.Ala982Gly
NM_001282677.1:c.2774C>G (PEX1) NP_001269606.1:p.Ala925Gly
NM_001282678.1:c.2321C>G (PEX1) NP_001269607.1:p.Ala774Gly
XM_005250433.3:c.1196C>G (PEX1) XP_005250490.1:p.Ala399Gly
XR_242246.3:n.3041C>G (PEX1)
XM_017012319.2:c.1196C>G (PEX1) XP_016867808.1:p.Ala399Gly
XR_001744808.2:n.1972C>G (PEX1)
XR_001744843.2:n.5347G>C (GATAD1)
XR_242246.5:n.2992C>G (PEX1)
XR_927494.3:n.4198G>C (GATAD1)
XR_927503.3:n.4129G>C (GATAD1)
NM_000466.3:c.2945C>G (PEX1) MANE Select NP_000457.1:p.Ala982Gly
NM_001282677.2:c.2774C>G (PEX1) NP_001269606.1:p.Ala925Gly
NM_001282678.2:c.2321C>G (PEX1) NP_001269607.1:p.Ala774Gly