Canonical Allele Identifier: CA391043827

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044349G>C , CM000676.2:g.102044349G>C	GRCh38
NC_000014.8:g.102510686G>C , CM000676.1:g.102510686G>C	GRCh37
NC_000014.7:g.101580439G>C	NCBI36
NG_008777.1:g.84822G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12760G>C MANE Select	NP_001367.2:p.Gly4254Arg
ENST00000360184.10:c.12760G>C MANE Select	ENSP00000348965.4:p.Gly4254Arg
NM_001376.4:c.12760G>C	NP_001367.2:p.Gly4254Arg
ENST00000360184.8:c.12760G>C	ENSP00000348965.4:p.Gly4254Arg
ENST00000553701.1:n.346+6096C>G
ENST00000557242.1:n.329-7580C>G
ENST00000557551.1:n.55C>G
ENST00000642716.1:n.797G>C
ENST00000643437.1:n.2714G>C
ENST00000643591.1:n.553G>C
ENST00000643829.1:n.2716G>C
ENST00000644239.2:n.896G>C
ENST00000644794.1:n.2879G>C
ENST00000644881.2:c.12760G>C	ENSP00000495022.2:p.Gly4254Arg
ENST00000645039.2:c.*611G>C	ENSP00000495220.2:n.*611G>C
ENST00000645085.1:n.1006G>C
ENST00000645149.2:c.12613G>C	ENSP00000495944.2:p.Gly4205Arg
ENST00000646418.1:n.1217G>C
ENST00000647204.2:n.2096G>C
ENST00000647366.1:n.6314G>C
ENST00000679486.1:c.*748G>C	ENSP00000506688.1:n.*748G>C
ENST00000679720.1:c.12760G>C	ENSP00000505938.1:p.Gly4254Arg
ENST00000679910.1:c.*3842G>C	ENSP00000506521.1:n.*3842G>C
ENST00000680120.1:c.12760G>C	ENSP00000504863.1:p.Gly4254Arg
ENST00000680200.1:c.*2019G>C	ENSP00000506166.1:n.*2019G>C
ENST00000680313.1:c.12760G>C	ENSP00000506208.1:p.Gly4254Arg
ENST00000680423.1:c.*4491G>C	ENSP00000505483.1:n.*4491G>C
ENST00000680715.1:c.*50G>C	ENSP00000505332.1:n.*50G>C
ENST00000681010.1:c.*443G>C	ENSP00000505201.1:n.*443G>C
ENST00000681066.1:c.*783G>C	ENSP00000506344.1:n.*783G>C
ENST00000681283.1:c.*1472G>C	ENSP00000505667.1:n.*1472G>C
ENST00000681536.1:c.*5959G>C	ENSP00000505821.1:n.*5959G>C
ENST00000681574.1:c.12760G>C	ENSP00000505523.1:p.Gly4254Arg
ENST00000681822.1:c.12760G>C	ENSP00000505744.1:p.Gly4254Arg
ENST00000684561.1:c.*4219G>C	ENSP00000506816.1:n.*4219G>C