Canonical Allele Identifier: CA2159618385
Community Standard Title: NM_001376.5(DYNC1H1):c.10420C= (p.Arg3474=)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.10420C= MANE Select NP_001367.2:p.Arg3474=
ENST00000360184.10:c.10420C= MANE Select ENSP00000348965.4:p.Arg3474=
NM_001376.4:c.10420C= NP_001367.2:p.Arg3474=
ENST00000360184.8:c.10420C= ENSP00000348965.4:p.Arg3474=
ENST00000556791.1:n.344C=
ENST00000643437.1:n.374C=
ENST00000643508.2:c.10420C= ENSP00000495528.2:p.Arg3474=
ENST00000643722.1:n.1043C=
ENST00000643829.1:n.249C=
ENST00000644881.2:c.10420C= ENSP00000495022.2:p.Arg3474=
ENST00000645039.2:c.10420C= ENSP00000495220.2:p.Arg3474=
ENST00000645149.2:c.10420C= ENSP00000495944.2:p.Arg3474=
ENST00000645697.1:n.1083C=
ENST00000647307.1:n.1127C=
ENST00000647366.1:n.3974C=
ENST00000679486.1:c.10420C= ENSP00000506688.1:p.Arg3474=
ENST00000679629.1:c.10420C= ENSP00000505589.1:p.Arg3474=
ENST00000679720.1:c.10420C= ENSP00000505938.1:p.Arg3474=
ENST00000679910.1:c.*1502C= ENSP00000506521.1:n.*1502C=
ENST00000680120.1:c.10420C= ENSP00000504863.1:p.Arg3474=
ENST00000680137.1:c.10420C= ENSP00000505294.1:p.Arg3474=
ENST00000680200.1:c.10420C= ENSP00000506166.1:p.Arg3474=
ENST00000680313.1:c.10420C= ENSP00000506208.1:p.Arg3474=
ENST00000680423.1:c.*2151C= ENSP00000505483.1:n.*2151C=
ENST00000680715.1:c.10420C= ENSP00000505332.1:p.Arg3474=
ENST00000680874.1:c.10420C= ENSP00000504911.1:p.Arg3474=
ENST00000681010.1:c.10420C= ENSP00000505201.1:p.Arg3474=
ENST00000681066.1:c.10420C= ENSP00000506344.1:p.Arg3474=
ENST00000681123.1:c.10420C= ENSP00000506124.1:p.Arg3474=
ENST00000681283.1:c.10420C= ENSP00000505667.1:p.Arg3474=
ENST00000681536.1:c.*3619C= ENSP00000505821.1:n.*3619C=
ENST00000681574.1:c.10420C= ENSP00000505523.1:p.Arg3474=
ENST00000681822.1:c.10420C= ENSP00000505744.1:p.Arg3474=
ENST00000684561.1:c.*1879C= ENSP00000506816.1:n.*1879C=