Canonical Allele Identifier: CA488186949
Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514833
dbSNP Id: rs1555412737

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102049746G>C , CM000676.2:g.102049746G>C GRCh38
NC_000014.8:g.102516083G>C , CM000676.1:g.102516083G>C GRCh37
NC_000014.7:g.101585836G>C NCBI36
NG_008777.1:g.90219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*5007G>C ENSP00000506816.1:n.*5007G>C
ENST00000360184.10:c.13548G>C MANE Select ENSP00000348965.4:p.Val4516=
ENST00000553701.1:n.346+699C>G
ENST00000555062.2:n.752G>C
ENST00000556229.2:n.1711G>C
ENST00000557242.1:n.328+2781C>G
ENST00000643437.1:n.4272G>C
ENST00000643591.1:n.2111G>C
ENST00000643729.1:n.2082G>C
ENST00000643829.1:n.3504G>C
ENST00000644239.2:n.1684G>C
ENST00000644881.2:c.13548G>C ENSP00000495022.2:p.Val4516=
ENST00000645039.2:c.*1399G>C ENSP00000495220.2:n.*1399G>C
ENST00000645085.1:n.1794G>C
ENST00000645149.2:c.13401G>C ENSP00000495944.2:p.Val4467=
ENST00000645978.2:n.741G>C
ENST00000647143.1:n.1953G>C
ENST00000647204.2:n.3654G>C
ENST00000647366.1:n.7102G>C
ENST00000679720.1:c.13548G>C ENSP00000505938.1:p.Val4516=
ENST00000679910.1:c.*4630G>C ENSP00000506521.1:n.*4630G>C
ENST00000680120.1:c.*307G>C ENSP00000504863.1:n.*307G>C
ENST00000680178.1:n.2008G>C
ENST00000680200.1:c.*2807G>C ENSP00000506166.1:n.*2807G>C
ENST00000680313.1:c.*294G>C ENSP00000506208.1:n.*294G>C
ENST00000680423.1:c.*5279G>C ENSP00000505483.1:n.*5279G>C
ENST00000680715.1:c.*838G>C ENSP00000505332.1:n.*838G>C
ENST00000681066.1:c.*1571G>C ENSP00000506344.1:n.*1571G>C
ENST00000681283.1:c.*2260G>C ENSP00000505667.1:n.*2260G>C
ENST00000681536.1:c.*6747G>C ENSP00000505821.1:n.*6747G>C
ENST00000681574.1:c.13548G>C ENSP00000505523.1:p.Val4516=
ENST00000681822.1:c.*32G>C ENSP00000505744.1:n.*32G>C
ENST00000360184.8:c.13548G>C ENSP00000348965.4:p.Val4516=
ENST00000555062.1:n.729G>C
NM_001376.4:c.13548G>C NP_001367.2:p.Val4516=
NM_001376.5:c.13548G>C MANE Select NP_001367.2:p.Val4516=