Canonical Allele Identifier: CA391031844

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102038566C>T , CM000676.2:g.102038566C>T	GRCh38
NC_000014.8:g.102504903C>T , CM000676.1:g.102504903C>T	GRCh37
NC_000014.7:g.101574656C>T	NCBI36
NG_008777.1:g.79039C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.11015C>T MANE Select	NP_001367.2:p.Ser3672Leu
ENST00000360184.10:c.11015C>T MANE Select	ENSP00000348965.4:p.Ser3672Leu
NM_001376.4:c.11015C>T	NP_001367.2:p.Ser3672Leu
ENST00000360184.8:c.11015C>T	ENSP00000348965.4:p.Ser3672Leu
ENST00000553423.1:c.335-132C>T
ENST00000553701.1:n.347-1797G>A
ENST00000555800.1:n.187C>T
ENST00000555800.2:n.189C>T
ENST00000557242.1:n.329-1797G>A
ENST00000557551.1:n.112-1797G>A
ENST00000643437.1:n.969C>T
ENST00000643829.1:n.844C>T
ENST00000644794.1:n.1043C>T
ENST00000644881.2:c.11015C>T	ENSP00000495022.2:p.Ser3672Leu
ENST00000645039.2:c.11015C>T	ENSP00000495220.2:p.Ser3672Leu
ENST00000645149.2:c.10909-132C>T	ENSP00000495944.2:n.10909-132C>T
ENST00000645697.1:n.1678C>T
ENST00000647204.2:n.256C>T
ENST00000647366.1:n.4569C>T
ENST00000679486.1:c.11015C>T	ENSP00000506688.1:p.Ser3672Leu
ENST00000679629.1:c.11015C>T	ENSP00000505589.1:p.Ser3672Leu
ENST00000679720.1:c.11015C>T	ENSP00000505938.1:p.Ser3672Leu
ENST00000679910.1:c.*2097C>T	ENSP00000506521.1:n.*2097C>T
ENST00000680120.1:c.11015C>T	ENSP00000504863.1:p.Ser3672Leu
ENST00000680200.1:c.*274C>T	ENSP00000506166.1:n.*274C>T
ENST00000680313.1:c.11015C>T	ENSP00000506208.1:p.Ser3672Leu
ENST00000680423.1:c.*2746C>T	ENSP00000505483.1:n.*2746C>T
ENST00000680715.1:c.11015C>T	ENSP00000505332.1:p.Ser3672Leu
ENST00000680874.1:c.*243C>T	ENSP00000504911.1:n.*243C>T
ENST00000681010.1:c.11015C>T	ENSP00000505201.1:p.Ser3672Leu
ENST00000681066.1:c.11015C>T	ENSP00000506344.1:p.Ser3672Leu
ENST00000681123.1:c.11015C>T	ENSP00000506124.1:p.Ser3672Leu
ENST00000681283.1:c.11015C>T	ENSP00000505667.1:p.Ser3672Leu
ENST00000681536.1:c.*4214C>T	ENSP00000505821.1:n.*4214C>T
ENST00000681574.1:c.11015C>T	ENSP00000505523.1:p.Ser3672Leu
ENST00000681822.1:c.11015C>T	ENSP00000505744.1:p.Ser3672Leu
ENST00000684561.1:c.*2474C>T	ENSP00000506816.1:n.*2474C>T
XR_001750903.1:n.87+390G>A