Canonical Allele Identifier: CA050995
Community Standard Title: NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585114C>T , CM000668.2:g.7585114C>T GRCh38
NC_000006.11:g.7585347C>T , CM000668.1:g.7585347C>T GRCh37
NC_000006.10:g.7530346C>T NCBI36
NG_008803.1:g.48478C>T , LRG_423:g.48478C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.7852C>T MANE Select NP_004406.2:p.Pro2618Ser
ENST00000379802.8:c.7852C>T MANE Select ENSP00000369129.3:p.Pro2618Ser
NM_001008844.1:c.6055C>T NP_001008844.1:p.Pro2019Ser
NM_001008844.2:c.6055C>T NP_001008844.1:p.Pro2019Ser
NM_001008844.3:c.6055C>T NP_001008844.1:p.Pro2019Ser
NM_001319034.1:c.6523C>T NP_001305963.1:p.Pro2175Ser
NM_001319034.2:c.6523C>T NP_001305963.1:p.Pro2175Ser
NM_004415.2:c.7852C>T , LRG_423t1:c.7852C>T NP_004406.2:p.Pro2618Ser
NM_004415.3:c.7852C>T NP_004406.2:p.Pro2618Ser
ENST00000379802.7:c.7852C>T ENSP00000369129.3:p.Pro2618Ser
ENST00000418664.2:c.6055C>T ENSP00000396591.2:p.Pro2019Ser
ENST00000710359.1:c.6523C>T ENSP00000518230.1:p.Pro2175Ser
XM_011514323.1:c.6523C>T XP_011512625.1:p.Pro2175Ser