Canonical Allele Identifier: CA266980974

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044276C>T , CM000676.2:g.102044276C>T	GRCh38
NC_000014.8:g.102510613C>T , CM000676.1:g.102510613C>T	GRCh37
NC_000014.7:g.101580366C>T	NCBI36
NG_008777.1:g.84749C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12687C>T MANE Select	NP_001367.2:p.Gly4229=
ENST00000360184.10:c.12687C>T MANE Select	ENSP00000348965.4:p.Gly4229=
NM_001376.4:c.12687C>T	NP_001367.2:p.Gly4229=
ENST00000360184.8:c.12687C>T	ENSP00000348965.4:p.Gly4229=
ENST00000553701.1:n.346+6169G>A
ENST00000557242.1:n.329-7507G>A
ENST00000557551.1:n.111+17G>A
ENST00000642716.1:n.724C>T
ENST00000643437.1:n.2641C>T
ENST00000643591.1:n.480C>T
ENST00000643829.1:n.2643C>T
ENST00000644239.2:n.823C>T
ENST00000644794.1:n.2806C>T
ENST00000644881.2:c.12687C>T	ENSP00000495022.2:p.Gly4229=
ENST00000645039.2:c.*538C>T	ENSP00000495220.2:n.*538C>T
ENST00000645085.1:n.933C>T
ENST00000645149.2:c.12540C>T	ENSP00000495944.2:p.Gly4180=
ENST00000646418.1:n.1144C>T
ENST00000647204.2:n.2023C>T
ENST00000647366.1:n.6241C>T
ENST00000679486.1:c.*675C>T	ENSP00000506688.1:n.*675C>T
ENST00000679720.1:c.12687C>T	ENSP00000505938.1:p.Gly4229=
ENST00000679910.1:c.*3769C>T	ENSP00000506521.1:n.*3769C>T
ENST00000680120.1:c.12687C>T	ENSP00000504863.1:p.Gly4229=
ENST00000680200.1:c.*1946C>T	ENSP00000506166.1:n.*1946C>T
ENST00000680313.1:c.12687C>T	ENSP00000506208.1:p.Gly4229=
ENST00000680423.1:c.*4418C>T	ENSP00000505483.1:n.*4418C>T
ENST00000680715.1:c.12685-3C>T	ENSP00000505332.1:n.12685-3C>T
ENST00000681010.1:c.*370C>T	ENSP00000505201.1:n.*370C>T
ENST00000681066.1:c.*710C>T	ENSP00000506344.1:n.*710C>T
ENST00000681283.1:c.*1399C>T	ENSP00000505667.1:n.*1399C>T
ENST00000681536.1:c.*5886C>T	ENSP00000505821.1:n.*5886C>T
ENST00000681574.1:c.12687C>T	ENSP00000505523.1:p.Gly4229=
ENST00000681822.1:c.12687C>T	ENSP00000505744.1:p.Gly4229=
ENST00000684561.1:c.*4146C>T	ENSP00000506816.1:n.*4146C>T