Canonical Allele Identifier: CA046168
Community Standard Title: NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583225A>G , CM000668.2:g.7583225A>G GRCh38
NC_000006.11:g.7583458A>G , CM000668.1:g.7583458A>G GRCh37
NC_000006.10:g.7528457A>G NCBI36
NG_008803.1:g.46589A>G , LRG_423:g.46589A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5963A>G MANE Select NP_004406.2:p.Lys1988Arg
ENST00000379802.8:c.5963A>G MANE Select ENSP00000369129.3:p.Lys1988Arg
NM_001008844.1:c.4166A>G NP_001008844.1:p.Lys1389Arg
NM_001008844.2:c.4166A>G NP_001008844.1:p.Lys1389Arg
NM_001008844.3:c.4166A>G NP_001008844.1:p.Lys1389Arg
NM_001319034.1:c.4634A>G NP_001305963.1:p.Lys1545Arg
NM_001319034.2:c.4634A>G NP_001305963.1:p.Lys1545Arg
NM_004415.2:c.5963A>G , LRG_423t1:c.5963A>G NP_004406.2:p.Lys1988Arg
NM_004415.3:c.5963A>G NP_004406.2:p.Lys1988Arg
ENST00000379802.7:c.5963A>G ENSP00000369129.3:p.Lys1988Arg
ENST00000418664.2:c.4166A>G ENSP00000396591.2:p.Lys1389Arg
ENST00000710359.1:c.4634A>G ENSP00000518230.1:p.Lys1545Arg
XM_011514323.1:c.4634A>G XP_011512625.1:p.Lys1545Arg