Canonical Allele Identifier: CA4594752

Gene: DYNC2I1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158914307C>T , CM000669.2:g.158914307C>T	GRCh38
NC_000007.13:g.158706998C>T , CM000669.1:g.158706998C>T	GRCh37
NC_000007.12:g.158399759C>T	NCBI36
NG_034051.1:g.62730C>T
NG_034051.2:g.80063C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018051.5:c.1777C>T MANE Select	NP_060521.4:p.Arg593Trp
ENST00000407559.8:c.1777C>T MANE Select	ENSP00000384290.3:p.Arg593Trp
NM_001350914.1:c.1639C>T	NP_001337843.1:p.Arg547Trp
NM_001350914.2:c.1639C>T	NP_001337843.1:p.Arg547Trp
NM_001350915.1:c.1204C>T	NP_001337844.1:p.Arg402Trp
NM_001350915.2:c.1204C>T	NP_001337844.1:p.Arg402Trp
NM_001350916.1:c.316C>T	NP_001337845.1:p.Arg106Trp
NM_001350916.2:c.316C>T	NP_001337845.1:p.Arg106Trp
NM_001350917.1:c.529C>T	NP_001337846.1:p.Arg177Trp
NM_001350917.2:c.529C>T	NP_001337846.1:p.Arg177Trp
NM_001350918.1:c.529C>T	NP_001337847.1:p.Arg177Trp
NM_001350918.2:c.529C>T	NP_001337847.1:p.Arg177Trp
NM_018051.4:c.1777C>T	NP_060521.4:p.Arg593Trp
ENST00000407559.7:c.1777C>T	ENSP00000384290.3:p.Arg593Trp
ENST00000444851.5:c.1108C>T	ENSP00000392608.1:p.Arg370Trp
ENST00000467220.1:n.3576C>T
XM_005249549.1:c.1213C>T	XP_005249606.1:p.Arg405Trp
XM_005249550.1:c.316C>T	XP_005249607.1:p.Arg106Trp
XM_006716041.1:c.1786C>T	XP_006716104.1:p.Arg596Trp
XM_006716041.2:c.1786C>T	XP_006716104.1:p.Arg596Trp
XM_011516367.1:c.1786C>T	XP_011514669.1:p.Arg596Trp
XM_011516367.2:c.1786C>T	XP_011514669.1:p.Arg596Trp
XM_011516368.1:c.1786C>T	XP_011514670.1:p.Arg596Trp
XM_011516368.2:c.1786C>T	XP_011514670.1:p.Arg596Trp
XM_011516369.1:c.1648C>T	XP_011514671.1:p.Arg550Trp
XM_011516369.2:c.1648C>T	XP_011514671.1:p.Arg550Trp
XM_017012381.2:c.1648C>T	XP_016867870.1:p.Arg550Trp
XM_017012382.1:c.1777C>T	XP_016867871.1:p.Arg593Trp
XM_017012388.1:c.316C>T	XP_016867877.1:p.Arg106Trp
XR_001744823.1:n.1959C>T
XR_001744824.1:n.1959C>T
XR_001744825.1:n.1959C>T
XR_001744826.1:n.1959C>T
XR_001744827.1:n.1959C>T
XR_001744828.1:n.1959C>T
XR_002956461.1:n.1950C>T
XR_242045.1:n.1940C>T
XR_242045.2:n.1959C>T
XR_428179.1:n.1940C>T
XR_428179.2:n.1959C>T
XR_927485.1:n.1940C>T
XR_927486.1:n.1931C>T
XR_927486.2:n.1950C>T