Canonical Allele Identifier: CA1608615207
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579929C= , CM000668.2:g.7579929C= GRCh38
NC_000006.11:g.7580162C= , CM000668.1:g.7580162C= GRCh37
NC_000006.10:g.7525161C= NCBI36
NG_008803.1:g.43293C= , LRG_423:g.43293C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3739C= ENSP00000518230.1:p.Arg1247=
ENST00000379802.8:c.3739C= MANE Select ENSP00000369129.3:p.Arg1247=
ENST00000379802.7:c.3739C= ENSP00000369129.3:p.Arg1247=
ENST00000418664.2:c.3582+157C= ENSP00000396591.2:n.3582+157C=
NM_001008844.1:c.3582+157C= NP_001008844.1:n.3582+157C=
NM_004415.2:c.3739C= , LRG_423t1:c.3739C= NP_004406.2:p.Arg1247=
XM_011514323.1:c.3739C= XP_011512625.1:p.Arg1247=
NM_001008844.2:c.3582+157C= NP_001008844.1:n.3582+157C=
NM_001319034.1:c.3739C= NP_001305963.1:p.Arg1247=
NM_004415.3:c.3739C= NP_004406.2:p.Arg1247=
NM_004415.4:c.3739C= MANE Select NP_004406.2:p.Arg1247=
NM_001008844.3:c.3582+157C= NP_001008844.1:n.3582+157C=
NM_001319034.2:c.3739C= NP_001305963.1:p.Arg1247=