Canonical Allele Identifier: CA391044237

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044457G>C , CM000676.2:g.102044457G>C	GRCh38
NC_000014.8:g.102510794G>C , CM000676.1:g.102510794G>C	GRCh37
NC_000014.7:g.101580547G>C	NCBI36
NG_008777.1:g.84930G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12868G>C MANE Select	NP_001367.2:p.Gly4290Arg
ENST00000360184.10:c.12868G>C MANE Select	ENSP00000348965.4:p.Gly4290Arg
NM_001376.4:c.12868G>C	NP_001367.2:p.Gly4290Arg
ENST00000360184.8:c.12868G>C	ENSP00000348965.4:p.Gly4290Arg
ENST00000553701.1:n.346+5988C>G
ENST00000557242.1:n.329-7688C>G
ENST00000642716.1:n.905G>C
ENST00000643437.1:n.2822G>C
ENST00000643591.1:n.661G>C
ENST00000643829.1:n.2824G>C
ENST00000644239.2:n.1004G>C
ENST00000644794.1:n.2987G>C
ENST00000644881.2:c.12868G>C	ENSP00000495022.2:p.Gly4290Arg
ENST00000645039.2:c.*719G>C	ENSP00000495220.2:n.*719G>C
ENST00000645085.1:n.1114G>C
ENST00000645149.2:c.12721G>C	ENSP00000495944.2:p.Gly4241Arg
ENST00000646418.1:n.1325G>C
ENST00000647204.2:n.2204G>C
ENST00000647366.1:n.6422G>C
ENST00000679486.1:c.*856G>C	ENSP00000506688.1:n.*856G>C
ENST00000679720.1:c.12868G>C	ENSP00000505938.1:p.Gly4290Arg
ENST00000679910.1:c.*3950G>C	ENSP00000506521.1:n.*3950G>C
ENST00000680120.1:c.12868G>C	ENSP00000504863.1:p.Gly4290Arg
ENST00000680200.1:c.*2127G>C	ENSP00000506166.1:n.*2127G>C
ENST00000680313.1:c.12868G>C	ENSP00000506208.1:p.Gly4290Arg
ENST00000680423.1:c.*4599G>C	ENSP00000505483.1:n.*4599G>C
ENST00000680715.1:c.*158G>C	ENSP00000505332.1:n.*158G>C
ENST00000681010.1:c.*551G>C	ENSP00000505201.1:n.*551G>C
ENST00000681066.1:c.*891G>C	ENSP00000506344.1:n.*891G>C
ENST00000681283.1:c.*1580G>C	ENSP00000505667.1:n.*1580G>C
ENST00000681536.1:c.*6067G>C	ENSP00000505821.1:n.*6067G>C
ENST00000681574.1:c.12868G>C	ENSP00000505523.1:p.Gly4290Arg
ENST00000681822.1:c.12868G>C	ENSP00000505744.1:p.Gly4290Arg
ENST00000684561.1:c.*4327G>C	ENSP00000506816.1:n.*4327G>C