Canonical Allele Identifier: CA174902
Gene: CADPS HGNC NCBI

Linked Data

ClinVar Variation Id: 161849
ClinVar RCV Id: RCV000149385
dbSNP Id: rs193921128
COSMIC: COSM1179562 COSM1179563
MyVariant Identifiers: chr3:g.62751617C>T (hg19) chr3:g.62765942C>T (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.62765942C>T , CM000665.2:g.62765942C>T GRCh38
NC_000003.11:g.62751617C>T , CM000665.1:g.62751617C>T GRCh37
NC_000003.10:g.62726657C>T NCBI36
NG_047093.1:g.114448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000383710.9:c.484G>A MANE Select ENSP00000373215.4:p.Ala162Thr
ENST00000283269.13:c.484G>A ENSP00000283269.9:p.Ala162Thr
ENST00000357948.7:c.484G>A ENSP00000350632.3:p.Ala162Thr
ENST00000383710.8:c.484G>A ENSP00000373215.4:p.Ala162Thr
ENST00000490353.2:c.484G>A ENSP00000418736.2:p.Ala162Thr
ENST00000612439.4:c.484G>A ENSP00000484365.1:p.Ala162Thr
NM_003716.3:c.484G>A NP_003707.2:p.Ala162Thr
NM_183393.2:c.484G>A NP_899630.1:p.Ala162Thr
NM_183394.2:c.484G>A NP_899631.1:p.Ala162Thr
XM_006713378.2:c.484G>A XP_006713441.2:p.Ala162Thr
XM_011534171.1:c.484G>A XP_011532473.1:p.Ala162Thr
XM_011534172.1:c.484G>A XP_011532474.1:p.Ala162Thr
XM_011534173.1:c.484G>A XP_011532475.1:p.Ala162Thr
XM_011534174.1:c.484G>A XP_011532476.1:p.Ala162Thr
XM_011534175.1:c.484G>A XP_011532477.1:p.Ala162Thr
XM_011534176.1:c.484G>A XP_011532478.1:p.Ala162Thr
XM_011534177.1:c.484G>A XP_011532479.1:p.Ala162Thr
XM_011534178.1:c.484G>A XP_011532480.1:p.Ala162Thr
XM_011534179.1:c.484G>A XP_011532481.1:p.Ala162Thr
XM_011534180.1:c.484G>A XP_011532482.1:p.Ala162Thr
XM_011534181.1:c.484G>A XP_011532483.1:p.Ala162Thr
XM_011534182.1:c.484G>A XP_011532484.1:p.Ala162Thr
XM_011534183.1:c.484G>A XP_011532485.1:p.Ala162Thr
XM_011534184.1:c.484G>A XP_011532486.1:p.Ala162Thr
XM_011534185.1:c.484G>A XP_011532487.1:p.Ala162Thr
XM_011534186.1:c.484G>A XP_011532488.1:p.Ala162Thr
XM_011534187.1:c.484G>A XP_011532489.1:p.Ala162Thr
XM_011534188.1:c.484G>A XP_011532490.1:p.Ala162Thr
XM_011534189.1:c.484G>A XP_011532491.1:p.Ala162Thr
XM_011534190.1:c.484G>A XP_011532492.1:p.Ala162Thr
XM_011534191.1:c.484G>A XP_011532493.1:p.Ala162Thr
XM_011534192.1:c.484G>A XP_011532494.1:p.Ala162Thr
XM_011534193.1:c.484G>A XP_011532495.1:p.Ala162Thr
XM_011534194.1:c.484G>A XP_011532496.1:p.Ala162Thr
XM_011534195.1:c.484G>A XP_011532497.1:p.Ala162Thr
XM_011534196.1:c.484G>A XP_011532498.1:p.Ala162Thr
XM_011534197.1:c.484G>A XP_011532499.1:p.Ala162Thr
XM_011534198.1:c.484G>A XP_011532500.1:p.Ala162Thr
XM_011534199.1:c.484G>A XP_011532501.1:p.Ala162Thr
XM_011534200.1:c.484G>A XP_011532502.1:p.Ala162Thr
XM_011534202.1:c.484G>A XP_011532504.1:p.Ala162Thr
XM_011534203.1:c.484G>A XP_011532505.1:p.Ala162Thr
XM_006713378.3:c.484G>A XP_006713441.2:p.Ala162Thr
XM_011534177.2:c.484G>A XP_011532479.1:p.Ala162Thr
XM_011534178.2:c.484G>A XP_011532480.1:p.Ala162Thr
XM_011534180.2:c.484G>A XP_011532482.1:p.Ala162Thr
XM_011534182.2:c.484G>A XP_011532484.1:p.Ala162Thr
XM_011534183.2:c.484G>A XP_011532485.1:p.Ala162Thr
XM_011534189.2:c.484G>A XP_011532491.1:p.Ala162Thr
XM_011534191.3:c.484G>A XP_011532493.1:p.Ala162Thr
XM_011534192.2:c.484G>A XP_011532494.1:p.Ala162Thr
XM_011534193.2:c.484G>A XP_011532495.1:p.Ala162Thr
XM_011534194.2:c.484G>A XP_011532496.1:p.Ala162Thr
XM_011534195.2:c.484G>A XP_011532497.1:p.Ala162Thr
XM_011534196.2:c.484G>A XP_011532498.1:p.Ala162Thr
XM_011534197.2:c.484G>A XP_011532499.1:p.Ala162Thr
XM_011534198.3:c.484G>A XP_011532500.1:p.Ala162Thr
XM_011534199.2:c.484G>A XP_011532501.1:p.Ala162Thr
XM_011534200.3:c.484G>A XP_011532502.1:p.Ala162Thr
XM_011534202.3:c.484G>A XP_011532504.1:p.Ala162Thr
XM_011534203.2:c.484G>A XP_011532505.1:p.Ala162Thr
XM_017007358.2:c.484G>A XP_016862847.1:p.Ala162Thr
XM_017007359.2:c.484G>A XP_016862848.1:p.Ala162Thr
XM_017007360.2:c.484G>A XP_016862849.1:p.Ala162Thr
XM_017007361.2:c.484G>A XP_016862850.1:p.Ala162Thr
XM_017007362.2:c.484G>A XP_016862851.1:p.Ala162Thr
XM_017007363.2:c.484G>A XP_016862852.1:p.Ala162Thr
XM_017007364.2:c.484G>A XP_016862853.1:p.Ala162Thr
XM_017007366.2:c.484G>A XP_016862855.1:p.Ala162Thr
XM_017007368.1:c.484G>A XP_016862857.1:p.Ala162Thr
XM_017007369.2:c.484G>A XP_016862858.1:p.Ala162Thr
XM_017007370.2:c.484G>A XP_016862859.1:p.Ala162Thr
XM_017007371.2:c.484G>A XP_016862860.1:p.Ala162Thr
XM_017007372.1:c.484G>A XP_016862861.1:p.Ala162Thr
XM_017007373.2:c.484G>A XP_016862862.1:p.Ala162Thr
XM_017007374.2:c.484G>A XP_016862863.1:p.Ala162Thr
XM_017007375.1:c.484G>A XP_016862864.1:p.Ala162Thr
XM_017007376.2:c.484G>A XP_016862865.1:p.Ala162Thr
XM_017007377.2:c.484G>A XP_016862866.1:p.Ala162Thr
XM_017007378.1:c.484G>A XP_016862867.1:p.Ala162Thr
XM_017007379.2:c.484G>A XP_016862868.1:p.Ala162Thr
XM_017007380.2:c.484G>A XP_016862869.1:p.Ala162Thr
XM_017007383.2:c.484G>A XP_016862872.1:p.Ala162Thr
XM_017007384.2:c.484G>A XP_016862873.1:p.Ala162Thr
XM_017007385.2:c.484G>A XP_016862874.1:p.Ala162Thr
XM_017007386.2:c.484G>A XP_016862875.1:p.Ala162Thr
XM_024453799.1:c.484G>A XP_024309567.1:p.Ala162Thr
XM_024453800.1:c.484G>A XP_024309568.1:p.Ala162Thr
XM_024453801.1:c.484G>A XP_024309569.1:p.Ala162Thr
XM_024453802.1:c.484G>A XP_024309570.1:p.Ala162Thr
NM_003716.4:c.484G>A MANE Select NP_003707.2:p.Ala162Thr
NM_183393.3:c.484G>A NP_899630.1:p.Ala162Thr
NM_183394.3:c.484G>A NP_899631.1:p.Ala162Thr
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