Canonical Allele Identifier: CA138246014
Gene: CNPY3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42929638T>C , CM000668.2:g.42929638T>C GRCh38
NC_000006.11:g.42897376T>C , CM000668.1:g.42897376T>C GRCh37
NC_000006.10:g.43005354T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372836.5:c.68T>C MANE Select ENSP00000361926.4:p.Leu23Pro
ENST00000372836.4:c.68T>C ENSP00000361926.4:p.Leu23Pro
ENST00000394142.7:c.68T>C ENSP00000377698.4:p.Leu23Pro
NM_006586.3:c.68T>C NP_006577.2:p.Leu23Pro
XM_005248815.2:c.68T>C XP_005248872.1:p.Leu23Pro
XM_005248817.1:c.-76T>C XP_005248874.1:n.-76T>C
XM_005248818.1:c.-370T>C XP_005248875.1:n.-370T>C
XM_006714967.2:c.-76T>C XP_006715030.1:n.-76T>C
XM_006714968.1:c.-246T>C XP_006715031.1:n.-246T>C
XM_011514252.1:c.-76T>C XP_011512554.1:n.-76T>C
NM_001318842.1:c.68T>C NP_001305771.1:p.Leu23Pro
NM_001318845.1:c.-76T>C NP_001305774.1:n.-76T>C
NM_001318847.1:c.68T>C NP_001305776.1:p.Leu23Pro
NM_001318848.1:c.68T>C NP_001305777.1:p.Leu23Pro
NM_001318856.1:c.-76T>C NP_001305785.1:n.-76T>C
NM_001318857.1:c.68T>C NP_001305786.1:p.Leu23Pro
NM_001318858.1:c.68T>C NP_001305787.1:p.Leu23Pro
NM_006586.4:c.68T>C NP_006577.2:p.Leu23Pro
NR_134880.1:n.509T>C
NR_134881.1:n.1637T>C
NR_134882.1:n.509T>C
NR_134885.1:n.509T>C
NR_134886.1:n.509T>C
NR_134888.1:n.509T>C
NR_134890.1:n.509T>C
NR_134891.1:n.509T>C
NR_134892.1:n.509T>C
NM_001318847.2:c.68T>C NP_001305776.1:p.Leu23Pro
NM_001318848.2:c.68T>C NP_001305777.1:p.Leu23Pro
NM_001318856.2:c.-76T>C NP_001305785.1:n.-76T>C
NM_001318857.2:c.68T>C NP_001305786.1:p.Leu23Pro
NM_001318858.2:c.68T>C NP_001305787.1:p.Leu23Pro
NM_006586.5:c.68T>C MANE Select NP_006577.2:p.Leu23Pro
NR_134885.2:n.159T>C
NR_134886.2:n.159T>C
NR_134890.2:n.159T>C
NR_134891.2:n.159T>C
NR_134892.2:n.159T>C