Canonical Allele Identifier: CA362690879
Community Standard Title: NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583741G>C , CM000668.2:g.7583741G>C GRCh38
NC_000006.11:g.7583974G>C , CM000668.1:g.7583974G>C GRCh37
NC_000006.10:g.7528973G>C NCBI36
NG_008803.1:g.47105G>C , LRG_423:g.47105G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.6479G>C MANE Select NP_004406.2:p.Arg2160Pro
ENST00000379802.8:c.6479G>C MANE Select ENSP00000369129.3:p.Arg2160Pro
NM_001008844.1:c.4682G>C NP_001008844.1:p.Arg1561Pro
NM_001008844.2:c.4682G>C NP_001008844.1:p.Arg1561Pro
NM_001008844.3:c.4682G>C NP_001008844.1:p.Arg1561Pro
NM_001319034.1:c.5150G>C NP_001305963.1:p.Arg1717Pro
NM_001319034.2:c.5150G>C NP_001305963.1:p.Arg1717Pro
NM_004415.2:c.6479G>C , LRG_423t1:c.6479G>C NP_004406.2:p.Arg2160Pro
NM_004415.3:c.6479G>C NP_004406.2:p.Arg2160Pro
ENST00000379802.7:c.6479G>C ENSP00000369129.3:p.Arg2160Pro
ENST00000418664.2:c.4682G>C ENSP00000396591.2:p.Arg1561Pro
ENST00000710359.1:c.5150G>C ENSP00000518230.1:p.Arg1717Pro
XM_011514323.1:c.5150G>C XP_011512625.1:p.Arg1717Pro