Canonical Allele Identifier: CA4340861

Linked Data

ClinVar Variation Id: 360916
dbSNP Id: rs781277635
gnomAD v2: 7-92120774-T-C
gnomAD v3: 7-92491460-T-C
gnomAD v4: 7-92491460-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491460T>C , CM000669.2:g.92491460T>C GRCh38
NC_000007.13:g.92120774T>C , CM000669.1:g.92120774T>C GRCh37
NC_000007.12:g.91958710T>C NCBI36
NG_008341.1:g.42072A>G
NG_008341.2:g.42072A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3250A>G (PEX1) MANE Select ENSP00000248633.4:p.Met1084Val
ENST00000248633.8:c.3250A>G (PEX1) ENSP00000248633.4:p.Met1084Val
ENST00000428214.5:c.3079A>G (PEX1) ENSP00000394413.1:p.Met1027Val
ENST00000438045.5:c.2284A>G (PEX1) ENSP00000410438.1:p.Met762Val
ENST00000484913.5:n.3289A>G (PEX1)
ENST00000496420.5:n.4305A>G (PEX1)
NM_000466.2:c.3250A>G (PEX1) NP_000457.1:p.Met1084Val
NM_001282677.1:c.3079A>G (PEX1) NP_001269606.1:p.Met1027Val
NM_001282678.1:c.2626A>G (PEX1) NP_001269607.1:p.Met876Val
XM_005250433.3:c.1501A>G (PEX1) XP_005250490.1:p.Met501Val
XR_242246.3:n.3346A>G (PEX1)
XM_017012319.2:c.1501A>G (PEX1) XP_016867808.1:p.Met501Val
XR_001744808.2:n.2277A>G (PEX1)
XR_001744842.2:n.2498T>C (GATAD1)
XR_001744843.2:n.2429T>C (GATAD1)
XR_002956472.1:n.2555T>C (GATAD1)
XR_002956473.1:n.2586T>C (GATAD1)
XR_002956474.1:n.2503T>C (GATAD1)
XR_242246.5:n.3297A>G (PEX1)
XR_927494.3:n.1280T>C (GATAD1)
XR_927500.3:n.1277T>C (GATAD1)
XR_927503.3:n.1211T>C (GATAD1)
NM_000466.3:c.3250A>G (PEX1) MANE Select NP_000457.1:p.Met1084Val
NM_001282677.2:c.3079A>G (PEX1) NP_001269606.1:p.Met1027Val
NM_001282678.2:c.2626A>G (PEX1) NP_001269607.1:p.Met876Val