Canonical Allele Identifier: CA38407811
Community Standard Title: NM_001377229.1(DISP1):c.1916C>T (p.Thr639Ile)
Gene: DISP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.223003313C>T , CM000663.2:g.223003313C>T GRCh38
NC_000001.10:g.223176655C>T , CM000663.1:g.223176655C>T GRCh37
NC_000001.9:g.221243278C>T NCBI36
NG_009243.2:g.193225C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001377229.1:c.1916C>T MANE Select NP_001364158.1:p.Thr639Ile
ENST00000675850.1:c.1916C>T MANE Select ENSP00000502357.1:p.Thr639Ile
NM_001350630.1:c.1187C>T NP_001337559.1:p.Thr396Ile
NM_001350630.2:c.1187C>T NP_001337559.1:p.Thr396Ile
NM_001369594.1:c.1916C>T NP_001356523.1:p.Thr639Ile
NM_001377228.1:c.1916C>T NP_001364157.1:p.Thr639Ile
NM_032890.3:c.1916C>T NP_116279.2:p.Thr639Ile
NM_032890.4:c.1916C>T NP_116279.2:p.Thr639Ile
NM_032890.5:c.1916C>T NP_116279.2:p.Thr639Ile
ENST00000284476.7:c.1916C>T ENSP00000284476.6:p.Thr639Ile
ENST00000674709.1:c.*1443C>T ENSP00000502092.1:n.*1443C>T
ENST00000674736.1:c.*1272C>T ENSP00000501873.1:n.*1272C>T
ENST00000675039.1:c.1916C>T ENSP00000501574.1:p.Thr639Ile
ENST00000675961.1:c.1916C>T ENSP00000501808.1:p.Thr639Ile
ENST00000676139.1:c.*1249C>T ENSP00000502496.1:n.*1249C>T
XM_005273335.1:c.1916C>T XP_005273392.1:p.Thr639Ile
XM_005273335.2:c.1916C>T XP_005273392.1:p.Thr639Ile
XM_006711592.1:c.1916C>T XP_006711655.1:p.Thr639Ile
XM_006711592.2:c.1916C>T XP_006711655.1:p.Thr639Ile
XM_006711594.2:c.1334C>T XP_006711657.1:p.Thr445Ile
XM_006711594.3:c.1334C>T XP_006711657.1:p.Thr445Ile
XM_011510072.1:c.1916C>T XP_011508374.1:p.Thr639Ile
XM_011510072.2:c.1916C>T XP_011508374.1:p.Thr639Ile
XM_011510073.1:c.1916C>T XP_011508375.1:p.Thr639Ile
XM_011510073.2:c.1916C>T XP_011508375.1:p.Thr639Ile
XM_011510074.1:c.1916C>T XP_011508376.1:p.Thr639Ile
XM_011510074.2:c.1916C>T XP_011508376.1:p.Thr639Ile
XM_011510075.1:c.1916C>T XP_011508377.1:p.Thr639Ile
XM_011510075.2:c.1916C>T XP_011508377.1:p.Thr639Ile
XM_011510076.1:c.1916C>T XP_011508378.1:p.Thr639Ile
XM_011510077.1:c.1916C>T XP_011508379.1:p.Thr639Ile
XM_011510077.2:c.1916C>T XP_011508379.1:p.Thr639Ile
XM_011510078.1:c.1334C>T XP_011508380.1:p.Thr445Ile
XM_017002611.1:c.1916C>T XP_016858100.1:p.Thr639Ile
XM_017002612.1:c.1334C>T XP_016858101.1:p.Thr445Ile