Canonical Allele Identifier: CA391034035

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs2048613744
• MyVariant Identifiers: chr14:g.102505568T>C (hg19) ; chr14:g.102039231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039231T>C , CM000676.2:g.102039231T>C	GRCh38
NC_000014.8:g.102505568T>C , CM000676.1:g.102505568T>C	GRCh37
NC_000014.7:g.101575321T>C	NCBI36
NG_008777.1:g.79704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2896T>C	ENSP00000506816.1:n.*2896T>C
ENST00000360184.10:c.11437T>C MANE Select	ENSP00000348965.4:p.Phe3813Leu
ENST00000553701.1:n.347-2462A>G
ENST00000557242.1:n.329-2462A>G
ENST00000557551.1:n.112-2462A>G
ENST00000643437.1:n.1391T>C
ENST00000643829.1:n.1266T>C
ENST00000644794.1:n.1556T>C
ENST00000644881.2:c.11437T>C	ENSP00000495022.2:p.Phe3813Leu
ENST00000645039.2:c.11437T>C	ENSP00000495220.2:p.Phe3813Leu
ENST00000645149.2:c.11290T>C	ENSP00000495944.2:p.Phe3764Leu
ENST00000645697.1:n.2100T>C
ENST00000647204.2:n.678T>C
ENST00000647366.1:n.4991T>C
ENST00000679486.1:c.11437T>C	ENSP00000506688.1:p.Phe3813Leu
ENST00000679629.1:c.11437T>C	ENSP00000505589.1:p.Phe3813Leu
ENST00000679720.1:c.11437T>C	ENSP00000505938.1:p.Phe3813Leu
ENST00000679910.1:c.*2519T>C	ENSP00000506521.1:n.*2519T>C
ENST00000680120.1:c.11437T>C	ENSP00000504863.1:p.Phe3813Leu
ENST00000680200.1:c.*696T>C	ENSP00000506166.1:n.*696T>C
ENST00000680313.1:c.11437T>C	ENSP00000506208.1:p.Phe3813Leu
ENST00000680423.1:c.*3168T>C	ENSP00000505483.1:n.*3168T>C
ENST00000680715.1:c.11437T>C	ENSP00000505332.1:p.Phe3813Leu
ENST00000681010.1:c.11437T>C	ENSP00000505201.1:p.Phe3813Leu
ENST00000681066.1:c.11437T>C	ENSP00000506344.1:p.Phe3813Leu
ENST00000681123.1:c.11437T>C	ENSP00000506124.1:p.Phe3813Leu
ENST00000681283.1:c.*149T>C	ENSP00000505667.1:n.*149T>C
ENST00000681536.1:c.*4636T>C	ENSP00000505821.1:n.*4636T>C
ENST00000681574.1:c.11437T>C	ENSP00000505523.1:p.Phe3813Leu
ENST00000681822.1:c.11437T>C	ENSP00000505744.1:p.Phe3813Leu
ENST00000360184.8:c.11437T>C	ENSP00000348965.4:p.Phe3813Leu
NM_001376.4:c.11437T>C	NP_001367.2:p.Phe3813Leu
NM_001376.5:c.11437T>C MANE Select	NP_001367.2:p.Phe3813Leu