Canonical Allele Identifier: CA391037115

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102040403C>T , CM000676.2:g.102040403C>T	GRCh38
NC_000014.8:g.102506740C>T , CM000676.1:g.102506740C>T	GRCh37
NC_000014.7:g.101576493C>T	NCBI36
NG_008777.1:g.80876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.11858C>T MANE Select	NP_001367.2:p.Ala3953Val
ENST00000360184.10:c.11858C>T MANE Select	ENSP00000348965.4:p.Ala3953Val
NM_001376.4:c.11858C>T	NP_001367.2:p.Ala3953Val
ENST00000360184.8:c.11858C>T	ENSP00000348965.4:p.Ala3953Val
ENST00000553701.1:n.347-3634G>A
ENST00000556139.1:n.410C>T
ENST00000556139.2:n.410C>T
ENST00000556499.1:n.16C>T
ENST00000556499.3:n.91C>T
ENST00000557242.1:n.329-3634G>A
ENST00000557551.1:n.112-3634G>A
ENST00000643437.1:n.1812C>T
ENST00000643829.1:n.1687C>T
ENST00000644794.1:n.1977C>T
ENST00000644881.2:c.11858C>T	ENSP00000495022.2:p.Ala3953Val
ENST00000645039.2:c.11690+671C>T	ENSP00000495220.2:n.11690+671C>T
ENST00000645085.1:n.187+671C>T
ENST00000645149.2:c.11711C>T	ENSP00000495944.2:p.Ala3904Val
ENST00000645697.1:n.2521C>T
ENST00000647204.2:n.1099C>T
ENST00000647366.1:n.5412C>T
ENST00000679486.1:c.11858C>T	ENSP00000506688.1:p.Ala3953Val
ENST00000679629.1:c.11691-195C>T	ENSP00000505589.1:n.11691-195C>T
ENST00000679720.1:c.11858C>T	ENSP00000505938.1:p.Ala3953Val
ENST00000679910.1:c.*2940C>T	ENSP00000506521.1:n.*2940C>T
ENST00000680120.1:c.11858C>T	ENSP00000504863.1:p.Ala3953Val
ENST00000680200.1:c.*1117C>T	ENSP00000506166.1:n.*1117C>T
ENST00000680313.1:c.11858C>T	ENSP00000506208.1:p.Ala3953Val
ENST00000680423.1:c.*3589C>T	ENSP00000505483.1:n.*3589C>T
ENST00000680715.1:c.11858C>T	ENSP00000505332.1:p.Ala3953Val
ENST00000681010.1:c.11858C>T	ENSP00000505201.1:p.Ala3953Val
ENST00000681066.1:c.11858C>T	ENSP00000506344.1:p.Ala3953Val
ENST00000681123.1:c.11858C>T	ENSP00000506124.1:p.Ala3953Val
ENST00000681283.1:c.*570C>T	ENSP00000505667.1:n.*570C>T
ENST00000681536.1:c.*5057C>T	ENSP00000505821.1:n.*5057C>T
ENST00000681574.1:c.11858C>T	ENSP00000505523.1:p.Ala3953Val
ENST00000681822.1:c.11858C>T	ENSP00000505744.1:p.Ala3953Val
ENST00000684561.1:c.*3317C>T	ENSP00000506816.1:n.*3317C>T