Canonical Allele Identifier: CA362675582
Community Standard Title: NM_004415.4(DSP):c.49A>G (p.Met17Val)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541964A>G , CM000668.2:g.7541964A>G GRCh38
NC_000006.11:g.7542197A>G , CM000668.1:g.7542197A>G GRCh37
NC_000006.10:g.7487196A>G NCBI36
NG_008803.1:g.5328A>G , LRG_423:g.5328A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.49A>G (DSP) MANE Select NP_004406.2:p.Met17Val
ENST00000379802.8:c.49A>G (DSP) MANE Select ENSP00000369129.3:p.Met17Val
NM_001008844.1:c.49A>G (DSP) NP_001008844.1:p.Met17Val
NM_001008844.2:c.49A>G (DSP) NP_001008844.1:p.Met17Val
NM_001008844.3:c.49A>G (DSP) NP_001008844.1:p.Met17Val
NM_001319034.1:c.49A>G (DSP) NP_001305963.1:p.Met17Val
NM_001319034.2:c.49A>G (DSP) NP_001305963.1:p.Met17Val
NM_004415.2:c.49A>G , LRG_423t1:c.49A>G (DSP) NP_004406.2:p.Met17Val
NM_004415.3:c.49A>G (DSP) NP_004406.2:p.Met17Val
ENST00000379802.7:c.49A>G (DSP) ENSP00000369129.3:p.Met17Val
ENST00000418664.2:c.49A>G (DSP) ENSP00000396591.2:p.Met17Val
ENST00000683682.2:c.49A>G (DSP) ENSP00000508162.2:p.Met17Val
ENST00000710359.1:c.49A>G (DSP) ENSP00000518230.1:p.Met17Val
XM_011514323.1:c.49A>G (DSP) XP_011512625.1:p.Met17Val
XR_241971.2:n.268+807T>C (DSP-AS1)
XR_241971.3:n.269+807T>C (DSP-AS1)