Canonical Allele Identifier: CA10584472

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 246393
• ClinVar RCV Id: RCV002051830 ; RCV003642883
• dbSNP Id: rs757725348
• MyVariant Identifiers: chr14:g.102500319C>T (hg19) ; chr14:g.102033982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102033982C>T , CM000676.2:g.102033982C>T	GRCh38
NC_000014.8:g.102500319C>T , CM000676.1:g.102500319C>T	GRCh37
NC_000014.7:g.101570072C>T	NCBI36
NG_008777.1:g.74455C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684561.1:c.*1879C>T	ENSP00000506816.1:n.*1879C>T
ENST00000360184.10:c.10420C>T MANE Select	ENSP00000348965.4:p.Arg3474Trp
ENST00000643437.1:n.374C>T
ENST00000643508.2:c.10420C>T	ENSP00000495528.2:p.Arg3474Trp
ENST00000643722.1:n.1043C>T
ENST00000643829.1:n.249C>T
ENST00000644881.2:c.10420C>T	ENSP00000495022.2:p.Arg3474Trp
ENST00000645039.2:c.10420C>T	ENSP00000495220.2:p.Arg3474Trp
ENST00000645149.2:c.10420C>T	ENSP00000495944.2:p.Arg3474Trp
ENST00000645697.1:n.1083C>T
ENST00000647307.1:n.1127C>T
ENST00000647366.1:n.3974C>T
ENST00000679486.1:c.10420C>T	ENSP00000506688.1:p.Arg3474Trp
ENST00000679629.1:c.10420C>T	ENSP00000505589.1:p.Arg3474Trp
ENST00000679720.1:c.10420C>T	ENSP00000505938.1:p.Arg3474Trp
ENST00000679910.1:c.*1502C>T	ENSP00000506521.1:n.*1502C>T
ENST00000680120.1:c.10420C>T	ENSP00000504863.1:p.Arg3474Trp
ENST00000680137.1:c.10420C>T	ENSP00000505294.1:p.Arg3474Trp
ENST00000680200.1:c.10420C>T	ENSP00000506166.1:p.Arg3474Trp
ENST00000680313.1:c.10420C>T	ENSP00000506208.1:p.Arg3474Trp
ENST00000680423.1:c.*2151C>T	ENSP00000505483.1:n.*2151C>T
ENST00000680715.1:c.10420C>T	ENSP00000505332.1:p.Arg3474Trp
ENST00000680874.1:c.10420C>T	ENSP00000504911.1:p.Arg3474Trp
ENST00000681010.1:c.10420C>T	ENSP00000505201.1:p.Arg3474Trp
ENST00000681066.1:c.10420C>T	ENSP00000506344.1:p.Arg3474Trp
ENST00000681123.1:c.10420C>T	ENSP00000506124.1:p.Arg3474Trp
ENST00000681283.1:c.10420C>T	ENSP00000505667.1:p.Arg3474Trp
ENST00000681536.1:c.*3619C>T	ENSP00000505821.1:n.*3619C>T
ENST00000681574.1:c.10420C>T	ENSP00000505523.1:p.Arg3474Trp
ENST00000681822.1:c.10420C>T	ENSP00000505744.1:p.Arg3474Trp
ENST00000360184.8:c.10420C>T	ENSP00000348965.4:p.Arg3474Trp
ENST00000556791.1:n.344C>T
NM_001376.4:c.10420C>T	NP_001367.2:p.Arg3474Trp
NM_001376.5:c.10420C>T MANE Select	NP_001367.2:p.Arg3474Trp