Canonical Allele Identifier: CA391049643

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049576G>C , CM000676.2:g.102049576G>C	GRCh38
NC_000014.8:g.102515913G>C , CM000676.1:g.102515913G>C	GRCh37
NC_000014.7:g.101585666G>C	NCBI36
NG_008777.1:g.90049G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13509G>C MANE Select	NP_001367.2:p.Glu4503Asp
ENST00000360184.10:c.13509G>C MANE Select	ENSP00000348965.4:p.Glu4503Asp
NM_001376.4:c.13509G>C	NP_001367.2:p.Glu4503Asp
ENST00000360184.8:c.13509G>C	ENSP00000348965.4:p.Glu4503Asp
ENST00000553701.1:n.346+869C>G
ENST00000555062.1:n.559G>C
ENST00000555062.2:n.582G>C
ENST00000556229.2:n.1672G>C
ENST00000557242.1:n.328+2951C>G
ENST00000643437.1:n.4233G>C
ENST00000643591.1:n.2072G>C
ENST00000643729.1:n.1912G>C
ENST00000643829.1:n.3465G>C
ENST00000644239.2:n.1645G>C
ENST00000644881.2:c.13509G>C	ENSP00000495022.2:p.Glu4503Asp
ENST00000645039.2:c.*1360G>C	ENSP00000495220.2:n.*1360G>C
ENST00000645085.1:n.1755G>C
ENST00000645149.2:c.13362G>C	ENSP00000495944.2:p.Glu4454Asp
ENST00000645978.2:n.571G>C
ENST00000647143.1:n.1914G>C
ENST00000647204.2:n.3615G>C
ENST00000647366.1:n.7063G>C
ENST00000679720.1:c.13509G>C	ENSP00000505938.1:p.Glu4503Asp
ENST00000679910.1:c.*4591G>C	ENSP00000506521.1:n.*4591G>C
ENST00000680120.1:c.*268G>C	ENSP00000504863.1:n.*268G>C
ENST00000680178.1:n.1838G>C
ENST00000680200.1:c.*2768G>C	ENSP00000506166.1:n.*2768G>C
ENST00000680313.1:c.*255G>C	ENSP00000506208.1:n.*255G>C
ENST00000680423.1:c.*5240G>C	ENSP00000505483.1:n.*5240G>C
ENST00000680715.1:c.*799G>C	ENSP00000505332.1:n.*799G>C
ENST00000681066.1:c.*1532G>C	ENSP00000506344.1:n.*1532G>C
ENST00000681283.1:c.*2221G>C	ENSP00000505667.1:n.*2221G>C
ENST00000681536.1:c.*6708G>C	ENSP00000505821.1:n.*6708G>C
ENST00000681574.1:c.13509G>C	ENSP00000505523.1:p.Glu4503Asp
ENST00000681822.1:c.13509G>C	ENSP00000505744.1:p.Glu4503Asp
ENST00000684561.1:c.*4968G>C	ENSP00000506816.1:n.*4968G>C