Canonical Allele Identifier: CA12642063

Gene: DYNC2I1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158932098G>C , CM000669.2:g.158932098G>C	GRCh38
NC_000007.13:g.158724789G>C , CM000669.1:g.158724789G>C	GRCh37
NC_000007.12:g.158417550G>C	NCBI36
NG_034051.1:g.80521G>C
NG_034051.2:g.97854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407559.8:c.2546+1583G>C MANE Select	ENSP00000384290.3:n.2546+1583G>C
ENST00000407559.7:c.2546+1583G>C	ENSP00000384290.3:n.2546+1583G>C
ENST00000444851.5:c.1704+1583G>C	ENSP00000392608.1:n.1704+1583G>C
ENST00000467220.1:n.4345+1583G>C
NM_018051.4:c.2546+1583G>C	NP_060521.4:n.2546+1583G>C
XM_005249549.1:c.1982+1583G>C	XP_005249606.1:n.1982+1583G>C
XM_005249550.1:c.1085+1583G>C	XP_005249607.1:n.1085+1583G>C
XM_006716041.1:c.2555+1583G>C	XP_006716104.1:n.2555+1583G>C
XM_011516367.1:c.2555+1583G>C	XP_011514669.1:n.2555+1583G>C
XM_011516368.1:c.2555+1583G>C	XP_011514670.1:n.2555+1583G>C
XM_011516369.1:c.2417+1583G>C	XP_011514671.1:n.2417+1583G>C
XR_242045.1:n.2698+1583G>C
XR_428179.1:n.2709+1583G>C
XR_927485.1:n.2536+1583G>C
XR_927486.1:n.2527+1583G>C
NM_001350914.1:c.2408+1583G>C	NP_001337843.1:n.2408+1583G>C
NM_001350915.1:c.1973+1583G>C	NP_001337844.1:n.1973+1583G>C
NM_001350916.1:c.1085+1583G>C	NP_001337845.1:n.1085+1583G>C
NM_001350917.1:c.1298+1583G>C	NP_001337846.1:n.1298+1583G>C
NM_001350918.1:c.1298+1583G>C	NP_001337847.1:n.1298+1583G>C
XM_006716041.2:c.2555+1583G>C	XP_006716104.1:n.2555+1583G>C
XM_011516367.2:c.2555+1583G>C	XP_011514669.1:n.2555+1583G>C
XM_011516368.2:c.2555+1583G>C	XP_011514670.1:n.2555+1583G>C
XM_011516369.2:c.2417+1583G>C	XP_011514671.1:n.2417+1583G>C
XM_017012381.2:c.2417+1583G>C	XP_016867870.1:n.2417+1583G>C
XM_017012382.1:c.2546+1583G>C	XP_016867871.1:n.2546+1583G>C
XM_017012388.1:c.1085+1583G>C	XP_016867877.1:n.1085+1583G>C
XR_001744823.1:n.2728+1583G>C
XR_001744824.1:n.2728+1583G>C
XR_001744825.1:n.2728+1583G>C
XR_001744826.1:n.2728+1583G>C
XR_001744827.1:n.2717+1583G>C
XR_001744828.1:n.2555+1583G>C
XR_002956461.1:n.3247+1583G>C
XR_242045.2:n.2717+1583G>C
XR_428179.2:n.2728+1583G>C
XR_927486.2:n.2546+1583G>C
NM_018051.5:c.2546+1583G>C MANE Select	NP_060521.4:n.2546+1583G>C
NM_001350915.2:c.1973+1583G>C	NP_001337844.1:n.1973+1583G>C
NM_001350916.2:c.1085+1583G>C	NP_001337845.1:n.1085+1583G>C
NM_001350917.2:c.1298+1583G>C	NP_001337846.1:n.1298+1583G>C
NM_001350918.2:c.1298+1583G>C	NP_001337847.1:n.1298+1583G>C
NM_001350914.2:c.2408+1583G>C	NP_001337843.1:n.2408+1583G>C