Canonical Allele Identifier: CA052641
Community Standard Title: NM_004415.4(DSP):c.850A>G (p.Met284Val)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565431A>G , CM000668.2:g.7565431A>G GRCh38
NC_000006.11:g.7565664A>G , CM000668.1:g.7565664A>G GRCh37
NC_000006.10:g.7510663A>G NCBI36
NG_008803.1:g.28795A>G , LRG_423:g.28795A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.850A>G MANE Select NP_004406.2:p.Met284Val
ENST00000379802.8:c.850A>G MANE Select ENSP00000369129.3:p.Met284Val
NM_001008844.1:c.850A>G NP_001008844.1:p.Met284Val
NM_001008844.2:c.850A>G NP_001008844.1:p.Met284Val
NM_001008844.3:c.850A>G NP_001008844.1:p.Met284Val
NM_001319034.1:c.850A>G NP_001305963.1:p.Met284Val
NM_001319034.2:c.850A>G NP_001305963.1:p.Met284Val
NM_004415.2:c.850A>G , LRG_423t1:c.850A>G NP_004406.2:p.Met284Val
NM_004415.3:c.850A>G NP_004406.2:p.Met284Val
ENST00000379802.7:c.850A>G ENSP00000369129.3:p.Met284Val
ENST00000418664.2:c.850A>G ENSP00000396591.2:p.Met284Val
ENST00000506617.1:n.368A>G
ENST00000682228.1:n.174A>G
ENST00000710359.1:c.850A>G ENSP00000518230.1:p.Met284Val
XM_011514323.1:c.850A>G XP_011512625.1:p.Met284Val