Canonical Allele Identifier: CA391052421

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050492T>C , CM000676.2:g.102050492T>C	GRCh38
NC_000014.8:g.102516829T>C , CM000676.1:g.102516829T>C	GRCh37
NC_000014.7:g.101586582T>C	NCBI36
NG_008777.1:g.90965T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13870T>C MANE Select	NP_001367.2:p.Phe4624Leu
ENST00000360184.10:c.13870T>C MANE Select	ENSP00000348965.4:p.Phe4624Leu
NM_001376.4:c.13870T>C	NP_001367.2:p.Phe4624Leu
ENST00000360184.8:c.13870T>C	ENSP00000348965.4:p.Phe4624Leu
ENST00000553701.1:n.299A>G
ENST00000555062.1:n.1051T>C
ENST00000555062.2:n.1074T>C
ENST00000556229.2:n.2033T>C
ENST00000557242.1:n.328+2035A>G
ENST00000643437.1:n.4594T>C
ENST00000643591.1:n.2669T>C
ENST00000643729.1:n.2592T>C
ENST00000643829.1:n.3826T>C
ENST00000644239.2:n.2006T>C
ENST00000644881.2:c.*76T>C	ENSP00000495022.2:n.*76T>C
ENST00000645039.2:c.*1721T>C	ENSP00000495220.2:n.*1721T>C
ENST00000645085.1:n.2116T>C
ENST00000645149.2:c.13723T>C	ENSP00000495944.2:p.Phe4575Leu
ENST00000645978.2:n.1063T>C
ENST00000647143.1:n.2275T>C
ENST00000647204.2:n.3976T>C
ENST00000679720.1:c.13833T>C	ENSP00000505938.1:p.Thr4611=
ENST00000679910.1:c.*4952T>C	ENSP00000506521.1:n.*4952T>C
ENST00000680120.1:c.*629T>C	ENSP00000504863.1:n.*629T>C
ENST00000680178.1:n.2566T>C
ENST00000680200.1:c.*3129T>C	ENSP00000506166.1:n.*3129T>C
ENST00000680313.1:c.*616T>C	ENSP00000506208.1:n.*616T>C
ENST00000680423.1:c.*5601T>C	ENSP00000505483.1:n.*5601T>C
ENST00000680715.1:c.*1160T>C	ENSP00000505332.1:n.*1160T>C
ENST00000681066.1:c.*1893T>C	ENSP00000506344.1:n.*1893T>C
ENST00000681283.1:c.*2582T>C	ENSP00000505667.1:n.*2582T>C
ENST00000681536.1:c.*7069T>C	ENSP00000505821.1:n.*7069T>C
ENST00000681574.1:c.*87T>C	ENSP00000505523.1:n.*87T>C
ENST00000681822.1:c.*354T>C	ENSP00000505744.1:n.*354T>C
ENST00000684561.1:c.*5329T>C	ENSP00000506816.1:n.*5329T>C