Canonical Allele Identifier: CA070917
Community Standard Title: NM_130797.4(DPP6):c.1039G>A (p.Ala347Thr)
Gene: DPP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.154772845G>A , CM000669.2:g.154772845G>A GRCh38
NC_000007.13:g.154564555G>A , CM000669.1:g.154564555G>A GRCh37
NC_000007.12:g.154195488G>A NCBI36
NG_033878.1:g.890512G>A
NG_033878.2:g.1029860G>A

Transcript Alleles

HGVS Amino-acid Change
NM_130797.4:c.1039G>A MANE Select NP_570629.2:p.Ala347Thr
ENST00000377770.8:c.1039G>A MANE Select ENSP00000367001.3:p.Ala347Thr
NM_001039350.2:c.847G>A NP_001034439.1:p.Ala283Thr
NM_001039350.3:c.847G>A NP_001034439.1:p.Ala283Thr
NM_001290252.1:c.718G>A NP_001277181.1:p.Ala240Thr
NM_001290252.2:c.718G>A NP_001277181.1:p.Ala240Thr
NM_001364497.1:c.856G>A NP_001351426.1:p.Ala286Thr
NM_001364497.2:c.856G>A NP_001351426.1:p.Ala286Thr
NM_001364498.1:c.856G>A NP_001351427.1:p.Ala286Thr
NM_001364498.2:c.856G>A NP_001351427.1:p.Ala286Thr
NM_001364499.1:c.856G>A NP_001351428.1:p.Ala286Thr
NM_001364499.2:c.856G>A NP_001351428.1:p.Ala286Thr
NM_001364500.1:c.856G>A NP_001351429.1:p.Ala286Thr
NM_001364500.2:c.856G>A NP_001351429.1:p.Ala286Thr
NM_001364501.1:c.847G>A NP_001351430.1:p.Ala283Thr
NM_001364501.2:c.847G>A NP_001351430.1:p.Ala283Thr
NM_001936.4:c.853G>A NP_001927.3:p.Ala285Thr
NM_001936.5:c.853G>A NP_001927.3:p.Ala285Thr
NM_130797.3:c.1039G>A NP_570629.2:p.Ala347Thr
NR_157195.1:n.1489G>A
NR_157195.2:n.1489G>A
NR_157196.1:n.1189G>A
NR_157196.2:n.1189G>A
ENST00000332007.7:c.853G>A ENSP00000328226.3:p.Ala285Thr
ENST00000377770.7:c.1039G>A ENSP00000367001.3:p.Ala347Thr
ENST00000404039.5:c.847G>A ENSP00000385578.1:p.Ala283Thr
ENST00000427557.1:c.718G>A ENSP00000397303.1:p.Ala240Thr
ENST00000706130.1:c.856G>A ENSP00000516215.1:p.Ala286Thr
ENST00000706151.1:c.64G>A ENSP00000516234.1:p.Ala22Thr
ENST00000706153.1:n.685G>A
ENST00000706154.1:n.323G>A
ENST00000706155.1:n.470G>A
XM_011515865.1:c.847G>A XP_011514167.1:p.Ala283Thr
XM_011515866.1:c.415G>A XP_011514168.1:p.Ala139Thr
XM_017011812.2:c.415G>A XP_016867301.1:p.Ala139Thr