Canonical Allele Identifier: CA050178
Community Standard Title: NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584845A>G , CM000668.2:g.7584845A>G GRCh38
NC_000006.11:g.7585078A>G , CM000668.1:g.7585078A>G GRCh37
NC_000006.10:g.7530077A>G NCBI36
NG_008803.1:g.48209A>G , LRG_423:g.48209A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7583A>G MANE Select NP_004406.2:p.Tyr2528Cys
ENST00000379802.8:c.7583A>G MANE Select ENSP00000369129.3:p.Tyr2528Cys
NM_001008844.1:c.5786A>G NP_001008844.1:p.Tyr1929Cys
NM_001008844.2:c.5786A>G NP_001008844.1:p.Tyr1929Cys
NM_001008844.3:c.5786A>G NP_001008844.1:p.Tyr1929Cys
NM_001319034.1:c.6254A>G NP_001305963.1:p.Tyr2085Cys
NM_001319034.2:c.6254A>G NP_001305963.1:p.Tyr2085Cys
NM_004415.2:c.7583A>G , LRG_423t1:c.7583A>G NP_004406.2:p.Tyr2528Cys
NM_004415.3:c.7583A>G NP_004406.2:p.Tyr2528Cys
ENST00000379802.7:c.7583A>G ENSP00000369129.3:p.Tyr2528Cys
ENST00000418664.2:c.5786A>G ENSP00000396591.2:p.Tyr1929Cys
ENST00000710359.1:c.6254A>G ENSP00000518230.1:p.Tyr2085Cys
XM_011514323.1:c.6254A>G XP_011512625.1:p.Tyr2085Cys