Canonical Allele Identifier: CA844176961

Gene: DYNC1I1

Linked Data

• dbSNP Id: rs1397625580
• gnomAD v3: 7-96001820-T-C
• gnomAD v4: 7-96001820-T-C
• MyVariant Identifiers: chr7:g.95631132T>C (hg19) ; chr7:g.96001820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96001820T>C , CM000669.2:g.96001820T>C	GRCh38
NC_000007.13:g.95631132T>C , CM000669.1:g.95631132T>C	GRCh37
NC_000007.12:g.95469068T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000324972.10:c.1020+5747T>C	ENSP00000320130.6:n.1020+5747T>C
ENST00000359388.8:c.909+5747T>C	ENSP00000352348.4:n.909+5747T>C
ENST00000437599.5:c.960+5747T>C	ENSP00000398118.1:n.960+5747T>C
ENST00000447467.6:c.969+5747T>C MANE Select	ENSP00000392337.2:n.969+5747T>C
ENST00000457059.2:c.969+5747T>C	ENSP00000412444.1:n.969+5747T>C
ENST00000519371.1:n.627+5747T>C
ENST00000537881.5:c.735+5747T>C	ENSP00000438377.2:n.735+5747T>C
ENST00000630942.2:c.909+5747T>C	ENSP00000486363.1:n.909+5747T>C
NM_001135556.1:c.969+5747T>C	NP_001129028.1:n.969+5747T>C
NM_001135557.1:c.909+5747T>C	NP_001129029.1:n.909+5747T>C
NM_001278421.1:c.960+5747T>C	NP_001265350.1:n.960+5747T>C
NM_001278422.1:c.909+5747T>C	NP_001265351.1:n.909+5747T>C
NM_004411.4:c.1020+5747T>C	NP_004402.1:n.1020+5747T>C
XM_011515861.1:c.1020+5747T>C	XP_011514163.1:n.1020+5747T>C
XM_011515862.1:c.969+5747T>C	XP_011514164.1:n.969+5747T>C
XM_011515863.1:c.1020+5747T>C	XP_011514165.1:n.1020+5747T>C
XM_011515861.2:c.1020+5747T>C	XP_011514163.1:n.1020+5747T>C
XM_011515863.3:c.1020+5747T>C	XP_011514165.1:n.1020+5747T>C
XM_017011804.1:c.1020+5747T>C	XP_016867293.1:n.1020+5747T>C
XM_017011805.1:c.969+5747T>C	XP_016867294.1:n.969+5747T>C
XM_017011806.2:c.969+5747T>C	XP_016867295.1:n.969+5747T>C
XM_017011807.2:c.*563T>C	XP_016867296.1:n.*563T>C
NM_001135556.2:c.969+5747T>C MANE Select	NP_001129028.1:n.969+5747T>C
NM_001135557.2:c.909+5747T>C	NP_001129029.1:n.909+5747T>C
NM_001278421.2:c.960+5747T>C	NP_001265350.1:n.960+5747T>C
NM_001278422.2:c.909+5747T>C	NP_001265351.1:n.909+5747T>C
NM_004411.5:c.1020+5747T>C	NP_004402.1:n.1020+5747T>C