Canonical Allele Identifier: CA4340803

Linked Data

dbSNP Id: rs764658999
gnomAD v2: 7-92119149-G-A
gnomAD v4: 7-92489835-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489835G>A , CM000669.2:g.92489835G>A GRCh38
NC_000007.13:g.92119149G>A , CM000669.1:g.92119149G>A GRCh37
NC_000007.12:g.91957085G>A NCBI36
NG_008341.1:g.43697C>T
NG_008341.2:g.43697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3515C>T (PEX1) MANE Select ENSP00000248633.4:p.Ser1172Leu
ENST00000248633.8:c.3515C>T (PEX1) ENSP00000248633.4:p.Ser1172Leu
ENST00000428214.5:c.3344C>T (PEX1) ENSP00000394413.1:p.Ser1115Leu
ENST00000438045.5:c.2549C>T (PEX1) ENSP00000410438.1:p.Ser850Leu
ENST00000469417.1:n.412C>T (PEX1)
ENST00000484913.5:n.3554C>T (PEX1)
ENST00000496420.5:n.4570C>T (PEX1)
NM_000466.2:c.3515C>T (PEX1) NP_000457.1:p.Ser1172Leu
NM_001282677.1:c.3344C>T (PEX1) NP_001269606.1:p.Ser1115Leu
NM_001282678.1:c.2891C>T (PEX1) NP_001269607.1:p.Ser964Leu
XM_005250433.3:c.1766C>T (PEX1) XP_005250490.1:p.Ser589Leu
XR_242246.3:n.3611C>T (PEX1)
XR_927494.1:n.1036-1408G>A (GATAD1)
XR_927495.1:n.1036-251G>A (GATAD1)
XR_927496.1:n.1041-1408G>A (GATAD1)
XR_927497.1:n.1036-251G>A (GATAD1)
XR_927498.1:n.1124-1408G>A (GATAD1)
XR_927500.1:n.1033-1408G>A (GATAD1)
XR_927502.1:n.1033-251G>A (GATAD1)
XR_927503.1:n.967-1408G>A (GATAD1)
XM_017012319.2:c.1766C>T (PEX1) XP_016867808.1:p.Ser589Leu
XR_001744808.2:n.2542C>T (PEX1)
XR_001744842.2:n.2281-1408G>A (GATAD1)
XR_001744843.2:n.2212-1408G>A (GATAD1)
XR_002956472.1:n.2281-251G>A (GATAD1)
XR_002956473.1:n.2369-1408G>A (GATAD1)
XR_002956474.1:n.2286-1408G>A (GATAD1)
XR_242246.5:n.3562C>T (PEX1)
XR_927494.3:n.1063-1408G>A (GATAD1)
XR_927500.3:n.1060-1408G>A (GATAD1)
XR_927503.3:n.994-1408G>A (GATAD1)
NM_000466.3:c.3515C>T (PEX1) MANE Select NP_000457.1:p.Ser1172Leu
NM_001282677.2:c.3344C>T (PEX1) NP_001269606.1:p.Ser1115Leu
NM_001282678.2:c.2891C>T (PEX1) NP_001269607.1:p.Ser964Leu