Canonical Allele Identifier: CA033919
Community Standard Title: NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575424T>C , CM000668.2:g.7575424T>C GRCh38
NC_000006.11:g.7575657T>C , CM000668.1:g.7575657T>C GRCh37
NC_000006.10:g.7520656T>C NCBI36
NG_008803.1:g.38788T>C , LRG_423:g.38788T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.2566T>C MANE Select NP_004406.2:p.Phe856Leu
ENST00000379802.8:c.2566T>C MANE Select ENSP00000369129.3:p.Phe856Leu
NM_001008844.1:c.2566T>C NP_001008844.1:p.Phe856Leu
NM_001008844.2:c.2566T>C NP_001008844.1:p.Phe856Leu
NM_001008844.3:c.2566T>C NP_001008844.1:p.Phe856Leu
NM_001319034.1:c.2566T>C NP_001305963.1:p.Phe856Leu
NM_001319034.2:c.2566T>C NP_001305963.1:p.Phe856Leu
NM_004415.2:c.2566T>C , LRG_423t1:c.2566T>C NP_004406.2:p.Phe856Leu
NM_004415.3:c.2566T>C NP_004406.2:p.Phe856Leu
ENST00000379802.7:c.2566T>C ENSP00000369129.3:p.Phe856Leu
ENST00000418664.2:c.2566T>C ENSP00000396591.2:p.Phe856Leu
ENST00000684395.1:n.1207T>C
ENST00000710359.1:c.2566T>C ENSP00000518230.1:p.Phe856Leu
XM_011514323.1:c.2566T>C XP_011512625.1:p.Phe856Leu