Canonical Allele Identifier: CA488186538

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102043961G>T , CM000676.2:g.102043961G>T	GRCh38
NC_000014.8:g.102510298G>T , CM000676.1:g.102510298G>T	GRCh37
NC_000014.7:g.101580051G>T	NCBI36
NG_008777.1:g.84434G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12600G>T MANE Select	NP_001367.2:p.Gly4200=
ENST00000360184.10:c.12600G>T MANE Select	ENSP00000348965.4:p.Gly4200=
NM_001376.4:c.12600G>T	NP_001367.2:p.Gly4200=
ENST00000360184.8:c.12600G>T	ENSP00000348965.4:p.Gly4200=
ENST00000553701.1:n.346+6484C>A
ENST00000557242.1:n.329-7192C>A
ENST00000557551.1:n.111+332C>A
ENST00000642716.1:n.637G>T
ENST00000643437.1:n.2554G>T
ENST00000643591.1:n.393G>T
ENST00000643829.1:n.2556G>T
ENST00000644239.2:n.736G>T
ENST00000644794.1:n.2719G>T
ENST00000644881.2:c.12600G>T	ENSP00000495022.2:p.Gly4200=
ENST00000645039.2:c.*451G>T	ENSP00000495220.2:n.*451G>T
ENST00000645085.1:n.846G>T
ENST00000645149.2:c.12453G>T	ENSP00000495944.2:p.Gly4151=
ENST00000646418.1:n.829G>T
ENST00000647204.2:n.1936G>T
ENST00000647366.1:n.6154G>T
ENST00000679486.1:c.*588G>T	ENSP00000506688.1:n.*588G>T
ENST00000679720.1:c.12600G>T	ENSP00000505938.1:p.Gly4200=
ENST00000679910.1:c.*3682G>T	ENSP00000506521.1:n.*3682G>T
ENST00000680120.1:c.12600G>T	ENSP00000504863.1:p.Gly4200=
ENST00000680200.1:c.*1859G>T	ENSP00000506166.1:n.*1859G>T
ENST00000680313.1:c.12600G>T	ENSP00000506208.1:p.Gly4200=
ENST00000680423.1:c.*4331G>T	ENSP00000505483.1:n.*4331G>T
ENST00000680715.1:c.12600G>T	ENSP00000505332.1:p.Gly4200=
ENST00000681010.1:c.*283G>T	ENSP00000505201.1:n.*283G>T
ENST00000681066.1:c.*623G>T	ENSP00000506344.1:n.*623G>T
ENST00000681283.1:c.*1312G>T	ENSP00000505667.1:n.*1312G>T
ENST00000681536.1:c.*5799G>T	ENSP00000505821.1:n.*5799G>T
ENST00000681574.1:c.12600G>T	ENSP00000505523.1:p.Gly4200=
ENST00000681822.1:c.12600G>T	ENSP00000505744.1:p.Gly4200=
ENST00000684561.1:c.*4059G>T	ENSP00000506816.1:n.*4059G>T