Canonical Allele Identifier: CA488186300

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2961722
• ClinVar RCV Id: RCV003822368
• dbSNP Id: rs1781918386
• MyVariant Identifiers: chr14:g.102506019C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039682C>T , CM000676.2:g.102039682C>T	GRCh38
NC_000014.8:g.102506019C>T , CM000676.1:g.102506019C>T	GRCh37
NC_000014.7:g.101575772C>T	NCBI36
NG_008777.1:g.80155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3099C>T	ENSP00000506816.1:n.*3099C>T
ENST00000360184.10:c.11640C>T MANE Select	ENSP00000348965.4:p.His3880=
ENST00000553701.1:n.347-2913G>A
ENST00000556139.2:n.192C>T
ENST00000557242.1:n.329-2913G>A
ENST00000557551.1:n.112-2913G>A
ENST00000643437.1:n.1594C>T
ENST00000643829.1:n.1469C>T
ENST00000644794.1:n.1759C>T
ENST00000644881.2:c.11640C>T	ENSP00000495022.2:p.His3880=
ENST00000645039.2:c.11640C>T	ENSP00000495220.2:p.His3880=
ENST00000645085.1:n.137C>T
ENST00000645149.2:c.11493C>T	ENSP00000495944.2:p.His3831=
ENST00000645697.1:n.2303C>T
ENST00000647204.2:n.881C>T
ENST00000647366.1:n.5194C>T
ENST00000679486.1:c.11640C>T	ENSP00000506688.1:p.His3880=
ENST00000679629.1:c.11640C>T	ENSP00000505589.1:p.His3880=
ENST00000679720.1:c.11640C>T	ENSP00000505938.1:p.His3880=
ENST00000679910.1:c.*2722C>T	ENSP00000506521.1:n.*2722C>T
ENST00000680120.1:c.11640C>T	ENSP00000504863.1:p.His3880=
ENST00000680200.1:c.*899C>T	ENSP00000506166.1:n.*899C>T
ENST00000680313.1:c.11640C>T	ENSP00000506208.1:p.His3880=
ENST00000680423.1:c.*3371C>T	ENSP00000505483.1:n.*3371C>T
ENST00000680715.1:c.11640C>T	ENSP00000505332.1:p.His3880=
ENST00000681010.1:c.11640C>T	ENSP00000505201.1:p.His3880=
ENST00000681066.1:c.11640C>T	ENSP00000506344.1:p.His3880=
ENST00000681123.1:c.11640C>T	ENSP00000506124.1:p.His3880=
ENST00000681283.1:c.*352C>T	ENSP00000505667.1:n.*352C>T
ENST00000681536.1:c.*4839C>T	ENSP00000505821.1:n.*4839C>T
ENST00000681574.1:c.11640C>T	ENSP00000505523.1:p.His3880=
ENST00000681822.1:c.11640C>T	ENSP00000505744.1:p.His3880=
ENST00000360184.8:c.11640C>T	ENSP00000348965.4:p.His3880=
ENST00000556139.1:n.192C>T
NM_001376.4:c.11640C>T	NP_001367.2:p.His3880=
NM_001376.5:c.11640C>T MANE Select	NP_001367.2:p.His3880=