Canonical Allele Identifier: CA034101
Community Standard Title: NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575455G>T , CM000668.2:g.7575455G>T GRCh38
NC_000006.11:g.7575688G>T , CM000668.1:g.7575688G>T GRCh37
NC_000006.10:g.7520687G>T NCBI36
NG_008803.1:g.38819G>T , LRG_423:g.38819G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.2597G>T MANE Select NP_004406.2:p.Arg866Leu
ENST00000379802.8:c.2597G>T MANE Select ENSP00000369129.3:p.Arg866Leu
NM_001008844.1:c.2597G>T NP_001008844.1:p.Arg866Leu
NM_001008844.2:c.2597G>T NP_001008844.1:p.Arg866Leu
NM_001008844.3:c.2597G>T NP_001008844.1:p.Arg866Leu
NM_001319034.1:c.2597G>T NP_001305963.1:p.Arg866Leu
NM_001319034.2:c.2597G>T NP_001305963.1:p.Arg866Leu
NM_004415.2:c.2597G>T , LRG_423t1:c.2597G>T NP_004406.2:p.Arg866Leu
NM_004415.3:c.2597G>T NP_004406.2:p.Arg866Leu
ENST00000379802.7:c.2597G>T ENSP00000369129.3:p.Arg866Leu
ENST00000418664.2:c.2597G>T ENSP00000396591.2:p.Arg866Leu
ENST00000684395.1:n.1238G>T
ENST00000710359.1:c.2597G>T ENSP00000518230.1:p.Arg866Leu
XM_011514323.1:c.2597G>T XP_011512625.1:p.Arg866Leu