Canonical Allele Identifier: CA7353720
Community Standard Title: NM_001376.5(DYNC1H1):c.11795C>T (p.Ala3932Val)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102040340C>T , CM000676.2:g.102040340C>T GRCh38
NC_000014.8:g.102506677C>T , CM000676.1:g.102506677C>T GRCh37
NC_000014.7:g.101576430C>T NCBI36
NG_008777.1:g.80813C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.11795C>T MANE Select NP_001367.2:p.Ala3932Val
ENST00000360184.10:c.11795C>T MANE Select ENSP00000348965.4:p.Ala3932Val
NM_001376.4:c.11795C>T NP_001367.2:p.Ala3932Val
ENST00000360184.8:c.11795C>T ENSP00000348965.4:p.Ala3932Val
ENST00000553701.1:n.347-3571G>A
ENST00000556139.1:n.347C>T
ENST00000556139.2:n.347C>T
ENST00000556499.3:n.28C>T
ENST00000557242.1:n.329-3571G>A
ENST00000557551.1:n.112-3571G>A
ENST00000643437.1:n.1749C>T
ENST00000643829.1:n.1624C>T
ENST00000644794.1:n.1914C>T
ENST00000644881.2:c.11795C>T ENSP00000495022.2:p.Ala3932Val
ENST00000645039.2:c.11690+608C>T ENSP00000495220.2:n.11690+608C>T
ENST00000645085.1:n.187+608C>T
ENST00000645149.2:c.11648C>T ENSP00000495944.2:p.Ala3883Val
ENST00000645697.1:n.2458C>T
ENST00000647204.2:n.1036C>T
ENST00000647366.1:n.5349C>T
ENST00000679486.1:c.11795C>T ENSP00000506688.1:p.Ala3932Val
ENST00000679629.1:c.11691-258C>T ENSP00000505589.1:n.11691-258C>T
ENST00000679720.1:c.11795C>T ENSP00000505938.1:p.Ala3932Val
ENST00000679910.1:c.*2877C>T ENSP00000506521.1:n.*2877C>T
ENST00000680120.1:c.11795C>T ENSP00000504863.1:p.Ala3932Val
ENST00000680200.1:c.*1054C>T ENSP00000506166.1:n.*1054C>T
ENST00000680313.1:c.11795C>T ENSP00000506208.1:p.Ala3932Val
ENST00000680423.1:c.*3526C>T ENSP00000505483.1:n.*3526C>T
ENST00000680715.1:c.11795C>T ENSP00000505332.1:p.Ala3932Val
ENST00000681010.1:c.11795C>T ENSP00000505201.1:p.Ala3932Val
ENST00000681066.1:c.11795C>T ENSP00000506344.1:p.Ala3932Val
ENST00000681123.1:c.11795C>T ENSP00000506124.1:p.Ala3932Val
ENST00000681283.1:c.*507C>T ENSP00000505667.1:n.*507C>T
ENST00000681536.1:c.*4994C>T ENSP00000505821.1:n.*4994C>T
ENST00000681574.1:c.11795C>T ENSP00000505523.1:p.Ala3932Val
ENST00000681822.1:c.11795C>T ENSP00000505744.1:p.Ala3932Val
ENST00000684561.1:c.*3254C>T ENSP00000506816.1:n.*3254C>T