Canonical Allele Identifier: CA005211
Community Standard Title: NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7555744A>T , CM000668.2:g.7555744A>T GRCh38
NC_000006.11:g.7555977A>T , CM000668.1:g.7555977A>T GRCh37
NC_000006.10:g.7500976A>T NCBI36
NG_008803.1:g.19108A>T , LRG_423:g.19108A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.197A>T MANE Select NP_004406.2:p.Gln66Leu
ENST00000379802.8:c.197A>T MANE Select ENSP00000369129.3:p.Gln66Leu
NM_001008844.1:c.197A>T NP_001008844.1:p.Gln66Leu
NM_001008844.2:c.197A>T NP_001008844.1:p.Gln66Leu
NM_001008844.3:c.197A>T NP_001008844.1:p.Gln66Leu
NM_001319034.1:c.197A>T NP_001305963.1:p.Gln66Leu
NM_001319034.2:c.197A>T NP_001305963.1:p.Gln66Leu
NM_004415.2:c.197A>T , LRG_423t1:c.197A>T NP_004406.2:p.Gln66Leu
NM_004415.3:c.197A>T NP_004406.2:p.Gln66Leu
ENST00000379802.7:c.197A>T ENSP00000369129.3:p.Gln66Leu
ENST00000418664.2:c.197A>T ENSP00000396591.2:p.Gln66Leu
ENST00000683563.1:n.89A>T
ENST00000683682.1:c.92A>T ENSP00000508162.1:p.Gln31Leu
ENST00000683682.2:c.197A>T ENSP00000508162.2:p.Gln66Leu
ENST00000710359.1:c.197A>T ENSP00000518230.1:p.Gln66Leu
XM_011514323.1:c.197A>T XP_011512625.1:p.Gln66Leu