Canonical Allele Identifier: CA7353965
Community Standard Title: NM_001376.5(DYNC1H1):c.12514-5A>G
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102043870A>G , CM000676.2:g.102043870A>G GRCh38
NC_000014.8:g.102510207A>G , CM000676.1:g.102510207A>G GRCh37
NC_000014.7:g.101579960A>G NCBI36
NG_008777.1:g.84343A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12514-5A>G MANE Select NP_001367.2:n.12514-5A>G
ENST00000360184.10:c.12514-5A>G MANE Select ENSP00000348965.4:n.12514-5A>G
NM_001376.4:c.12514-5A>G NP_001367.2:n.12514-5A>G
ENST00000360184.8:c.12514-5A>G ENSP00000348965.4:n.12514-5A>G
ENST00000553701.1:n.346+6575T>C
ENST00000557242.1:n.329-7101T>C
ENST00000557551.1:n.111+423T>C
ENST00000642716.1:n.546A>G
ENST00000643437.1:n.2468-5A>G
ENST00000643591.1:n.307-5A>G
ENST00000643829.1:n.2470-5A>G
ENST00000644239.2:n.650-5A>G
ENST00000644794.1:n.2633-5A>G
ENST00000644881.2:c.12514-5A>G ENSP00000495022.2:n.12514-5A>G
ENST00000645039.2:c.*365-5A>G ENSP00000495220.2:n.*365-5A>G
ENST00000645085.1:n.760-5A>G
ENST00000645149.2:c.12367-5A>G ENSP00000495944.2:n.12367-5A>G
ENST00000646418.1:n.738A>G
ENST00000647204.2:n.1850-5A>G
ENST00000647366.1:n.6068-5A>G
ENST00000679486.1:c.*497A>G ENSP00000506688.1:n.*497A>G
ENST00000679720.1:c.12514-5A>G ENSP00000505938.1:n.12514-5A>G
ENST00000679910.1:c.*3596-5A>G ENSP00000506521.1:n.*3596-5A>G
ENST00000680120.1:c.12514-5A>G ENSP00000504863.1:n.12514-5A>G
ENST00000680200.1:c.*1773-5A>G ENSP00000506166.1:n.*1773-5A>G
ENST00000680313.1:c.12514-5A>G ENSP00000506208.1:n.12514-5A>G
ENST00000680423.1:c.*4245-5A>G ENSP00000505483.1:n.*4245-5A>G
ENST00000680715.1:c.12514-5A>G ENSP00000505332.1:n.12514-5A>G
ENST00000681010.1:c.*192A>G ENSP00000505201.1:n.*192A>G
ENST00000681066.1:c.*537-5A>G ENSP00000506344.1:n.*537-5A>G
ENST00000681283.1:c.*1226-5A>G ENSP00000505667.1:n.*1226-5A>G
ENST00000681536.1:c.*5713-5A>G ENSP00000505821.1:n.*5713-5A>G
ENST00000681574.1:c.12514-5A>G ENSP00000505523.1:n.12514-5A>G
ENST00000681822.1:c.12514-5A>G ENSP00000505744.1:n.12514-5A>G
ENST00000684561.1:c.*3973-5A>G ENSP00000506816.1:n.*3973-5A>G