Canonical Allele Identifier: CA004770
Community Standard Title: NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567411A>T , CM000668.2:g.7567411A>T GRCh38
NC_000006.11:g.7567644A>T , CM000668.1:g.7567644A>T GRCh37
NC_000006.10:g.7512643A>T NCBI36
NG_008803.1:g.30775A>T , LRG_423:g.30775A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.1102A>T MANE Select NP_004406.2:p.Ile368Phe
ENST00000379802.8:c.1102A>T MANE Select ENSP00000369129.3:p.Ile368Phe
NM_001008844.1:c.1102A>T NP_001008844.1:p.Ile368Phe
NM_001008844.2:c.1102A>T NP_001008844.1:p.Ile368Phe
NM_001008844.3:c.1102A>T NP_001008844.1:p.Ile368Phe
NM_001319034.1:c.1102A>T NP_001305963.1:p.Ile368Phe
NM_001319034.2:c.1102A>T NP_001305963.1:p.Ile368Phe
NM_004415.2:c.1102A>T , LRG_423t1:c.1102A>T NP_004406.2:p.Ile368Phe
NM_004415.3:c.1102A>T NP_004406.2:p.Ile368Phe
ENST00000379802.7:c.1102A>T ENSP00000369129.3:p.Ile368Phe
ENST00000418664.2:c.1102A>T ENSP00000396591.2:p.Ile368Phe
ENST00000682228.1:n.426A>T
ENST00000710359.1:c.1102A>T ENSP00000518230.1:p.Ile368Phe
XM_011514323.1:c.1102A>T XP_011512625.1:p.Ile368Phe