Canonical Allele Identifier: CA7353717

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102040310C>T , CM000676.2:g.102040310C>T	GRCh38
NC_000014.8:g.102506647C>T , CM000676.1:g.102506647C>T	GRCh37
NC_000014.7:g.101576400C>T	NCBI36
NG_008777.1:g.80783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3224C>T	ENSP00000506816.1:n.*3224C>T
ENST00000360184.10:c.11765C>T MANE Select	ENSP00000348965.4:p.Pro3922Leu
ENST00000553701.1:n.347-3541G>A
ENST00000556139.2:n.317C>T
ENST00000557242.1:n.329-3541G>A
ENST00000557551.1:n.112-3541G>A
ENST00000643437.1:n.1719C>T
ENST00000643829.1:n.1594C>T
ENST00000644794.1:n.1884C>T
ENST00000644881.2:c.11765C>T	ENSP00000495022.2:p.Pro3922Leu
ENST00000645039.2:c.11690+578C>T	ENSP00000495220.2:n.11690+578C>T
ENST00000645085.1:n.187+578C>T
ENST00000645149.2:c.11618C>T	ENSP00000495944.2:p.Pro3873Leu
ENST00000645697.1:n.2428C>T
ENST00000647204.2:n.1006C>T
ENST00000647366.1:n.5319C>T
ENST00000679486.1:c.11765C>T	ENSP00000506688.1:p.Pro3922Leu
ENST00000679629.1:c.11691-288C>T	ENSP00000505589.1:n.11691-288C>T
ENST00000679720.1:c.11765C>T	ENSP00000505938.1:p.Pro3922Leu
ENST00000679910.1:c.*2847C>T	ENSP00000506521.1:n.*2847C>T
ENST00000680120.1:c.11765C>T	ENSP00000504863.1:p.Pro3922Leu
ENST00000680200.1:c.*1024C>T	ENSP00000506166.1:n.*1024C>T
ENST00000680313.1:c.11765C>T	ENSP00000506208.1:p.Pro3922Leu
ENST00000680423.1:c.*3496C>T	ENSP00000505483.1:n.*3496C>T
ENST00000680715.1:c.11765C>T	ENSP00000505332.1:p.Pro3922Leu
ENST00000681010.1:c.11765C>T	ENSP00000505201.1:p.Pro3922Leu
ENST00000681066.1:c.11765C>T	ENSP00000506344.1:p.Pro3922Leu
ENST00000681123.1:c.11765C>T	ENSP00000506124.1:p.Pro3922Leu
ENST00000681283.1:c.*477C>T	ENSP00000505667.1:n.*477C>T
ENST00000681536.1:c.*4964C>T	ENSP00000505821.1:n.*4964C>T
ENST00000681574.1:c.11765C>T	ENSP00000505523.1:p.Pro3922Leu
ENST00000681822.1:c.11765C>T	ENSP00000505744.1:p.Pro3922Leu
ENST00000360184.8:c.11765C>T	ENSP00000348965.4:p.Pro3922Leu
ENST00000556139.1:n.317C>T
NM_001376.4:c.11765C>T	NP_001367.2:p.Pro3922Leu
NM_001376.5:c.11765C>T MANE Select	NP_001367.2:p.Pro3922Leu