Canonical Allele Identifier: CA459136692

Gene: DYNC2I1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158871423A>G , CM000669.2:g.158871423A>G	GRCh38
NC_000007.13:g.158664114A>G , CM000669.1:g.158664114A>G	GRCh37
NC_000007.12:g.158356875A>G	NCBI36
NG_034051.1:g.19846A>G
NG_034051.2:g.37179A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018051.5:c.351A>G MANE Select	NP_060521.4:p.Arg117=
ENST00000407559.8:c.351A>G MANE Select	ENSP00000384290.3:p.Arg117=
NM_001350914.1:c.213A>G	NP_001337843.1:p.Arg71=
NM_001350914.2:c.213A>G	NP_001337843.1:p.Arg71=
NM_001350915.1:c.-167A>G	NP_001337844.1:n.-167A>G
NM_001350915.2:c.-167A>G	NP_001337844.1:n.-167A>G
NM_001350916.1:c.-1008A>G	NP_001337845.1:n.-1008A>G
NM_001350916.2:c.-1008A>G	NP_001337845.1:n.-1008A>G
NM_001350917.1:c.-1016A>G	NP_001337846.1:n.-1016A>G
NM_001350917.2:c.-1016A>G	NP_001337846.1:n.-1016A>G
NM_001350918.1:c.-1135A>G	NP_001337847.1:n.-1135A>G
NM_001350918.2:c.-1135A>G	NP_001337847.1:n.-1135A>G
NM_018051.4:c.351A>G	NP_060521.4:p.Arg117=
ENST00000397143.3:c.213A>G	ENSP00000380330.3:p.Arg71=
ENST00000407559.7:c.351A>G	ENSP00000384290.3:p.Arg117=
XM_005249549.1:c.-167A>G	XP_005249606.1:n.-167A>G
XM_006716041.1:c.351A>G	XP_006716104.1:p.Arg117=
XM_006716041.2:c.351A>G	XP_006716104.1:p.Arg117=
XM_011516367.1:c.351A>G	XP_011514669.1:p.Arg117=
XM_011516367.2:c.351A>G	XP_011514669.1:p.Arg117=
XM_011516368.1:c.351A>G	XP_011514670.1:p.Arg117=
XM_011516368.2:c.351A>G	XP_011514670.1:p.Arg117=
XM_011516369.1:c.213A>G	XP_011514671.1:p.Arg71=
XM_011516369.2:c.213A>G	XP_011514671.1:p.Arg71=
XM_017012381.2:c.213A>G	XP_016867870.1:p.Arg71=
XM_017012382.1:c.351A>G	XP_016867871.1:p.Arg117=
XR_001744823.1:n.524A>G
XR_001744824.1:n.524A>G
XR_001744825.1:n.524A>G
XR_001744826.1:n.524A>G
XR_001744827.1:n.524A>G
XR_001744828.1:n.524A>G
XR_002956461.1:n.524A>G
XR_242045.1:n.505A>G
XR_242045.2:n.524A>G
XR_428179.1:n.505A>G
XR_428179.2:n.524A>G
XR_927485.1:n.505A>G
XR_927486.1:n.505A>G
XR_927486.2:n.524A>G