Canonical Allele Identifier: CA028321
Community Standard Title: NM_004415.4(DSP):c.146C>T (p.Thr49Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7542061C>T , CM000668.2:g.7542061C>T GRCh38
NC_000006.11:g.7542294C>T , CM000668.1:g.7542294C>T GRCh37
NC_000006.10:g.7487293C>T NCBI36
NG_008803.1:g.5425C>T , LRG_423:g.5425C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.146C>T (DSP) MANE Select NP_004406.2:p.Thr49Ile
ENST00000379802.8:c.146C>T (DSP) MANE Select ENSP00000369129.3:p.Thr49Ile
NM_001008844.1:c.146C>T (DSP) NP_001008844.1:p.Thr49Ile
NM_001008844.2:c.146C>T (DSP) NP_001008844.1:p.Thr49Ile
NM_001008844.3:c.146C>T (DSP) NP_001008844.1:p.Thr49Ile
NM_001319034.1:c.146C>T (DSP) NP_001305963.1:p.Thr49Ile
NM_001319034.2:c.146C>T (DSP) NP_001305963.1:p.Thr49Ile
NM_004415.2:c.146C>T , LRG_423t1:c.146C>T (DSP) NP_004406.2:p.Thr49Ile
NM_004415.3:c.146C>T (DSP) NP_004406.2:p.Thr49Ile
ENST00000379802.7:c.146C>T (DSP) ENSP00000369129.3:p.Thr49Ile
ENST00000418664.2:c.146C>T (DSP) ENSP00000396591.2:p.Thr49Ile
ENST00000683563.1:n.38C>T (DSP)
ENST00000683682.1:c.41C>T (DSP) ENSP00000508162.1:p.Thr14Ile
ENST00000683682.2:c.146C>T (DSP) ENSP00000508162.2:p.Thr49Ile
ENST00000710359.1:c.146C>T (DSP) ENSP00000518230.1:p.Thr49Ile
XM_011514323.1:c.146C>T (DSP) XP_011512625.1:p.Thr49Ile
XR_241971.2:n.268+710G>A (DSP-AS1)
XR_241971.3:n.269+710G>A (DSP-AS1)