Canonical Allele Identifier: CA4594267

Gene: DYNC2I1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158871297C>T , CM000669.2:g.158871297C>T	GRCh38
NC_000007.13:g.158663988C>T , CM000669.1:g.158663988C>T	GRCh37
NC_000007.12:g.158356749C>T	NCBI36
NG_034051.1:g.19720C>T
NG_034051.2:g.37053C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018051.5:c.225C>T MANE Select	NP_060521.4:p.Thr75=
ENST00000407559.8:c.225C>T MANE Select	ENSP00000384290.3:p.Thr75=
NM_001350914.1:c.87C>T	NP_001337843.1:p.Thr29=
NM_001350914.2:c.87C>T	NP_001337843.1:p.Thr29=
NM_001350915.1:c.-293C>T	NP_001337844.1:n.-293C>T
NM_001350915.2:c.-293C>T	NP_001337844.1:n.-293C>T
NM_001350916.1:c.-1134C>T	NP_001337845.1:n.-1134C>T
NM_001350916.2:c.-1134C>T	NP_001337845.1:n.-1134C>T
NM_001350917.1:c.-1142C>T	NP_001337846.1:n.-1142C>T
NM_001350917.2:c.-1142C>T	NP_001337846.1:n.-1142C>T
NM_001350918.1:c.-1261C>T	NP_001337847.1:n.-1261C>T
NM_001350918.2:c.-1261C>T	NP_001337847.1:n.-1261C>T
NM_018051.4:c.225C>T	NP_060521.4:p.Thr75=
ENST00000397143.3:c.87C>T	ENSP00000380330.3:p.Thr29=
ENST00000407559.7:c.225C>T	ENSP00000384290.3:p.Thr75=
XM_005249549.1:c.-293C>T	XP_005249606.1:n.-293C>T
XM_006716041.1:c.225C>T	XP_006716104.1:p.Thr75=
XM_006716041.2:c.225C>T	XP_006716104.1:p.Thr75=
XM_011516367.1:c.225C>T	XP_011514669.1:p.Thr75=
XM_011516367.2:c.225C>T	XP_011514669.1:p.Thr75=
XM_011516368.1:c.225C>T	XP_011514670.1:p.Thr75=
XM_011516368.2:c.225C>T	XP_011514670.1:p.Thr75=
XM_011516369.1:c.87C>T	XP_011514671.1:p.Thr29=
XM_011516369.2:c.87C>T	XP_011514671.1:p.Thr29=
XM_017012381.2:c.87C>T	XP_016867870.1:p.Thr29=
XM_017012382.1:c.225C>T	XP_016867871.1:p.Thr75=
XR_001744823.1:n.398C>T
XR_001744824.1:n.398C>T
XR_001744825.1:n.398C>T
XR_001744826.1:n.398C>T
XR_001744827.1:n.398C>T
XR_001744828.1:n.398C>T
XR_002956461.1:n.398C>T
XR_242045.1:n.379C>T
XR_242045.2:n.398C>T
XR_428179.1:n.379C>T
XR_428179.2:n.398C>T
XR_927485.1:n.379C>T
XR_927486.1:n.379C>T
XR_927486.2:n.398C>T