Canonical Allele Identifier: CA616580581
Community Standard Title: NM_001376.5(DYNC1H1):c.12215-4C>T
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102042224C>T , CM000676.2:g.102042224C>T GRCh38
NC_000014.8:g.102508561C>T , CM000676.1:g.102508561C>T GRCh37
NC_000014.7:g.101578314C>T NCBI36
NG_008777.1:g.82697C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12215-4C>T MANE Select NP_001367.2:n.12215-4C>T
ENST00000360184.10:c.12215-4C>T MANE Select ENSP00000348965.4:n.12215-4C>T
NM_001376.4:c.12215-4C>T NP_001367.2:n.12215-4C>T
ENST00000360184.8:c.12215-4C>T ENSP00000348965.4:n.12215-4C>T
ENST00000553701.1:n.347-5455G>A
ENST00000556139.2:n.767-4C>T
ENST00000556499.3:n.1348-4C>T
ENST00000557242.1:n.329-5455G>A
ENST00000557551.1:n.111+2069G>A
ENST00000643437.1:n.2169-4C>T
ENST00000643591.1:n.8-4C>T
ENST00000643829.1:n.2044-4C>T
ENST00000644239.2:n.351-4C>T
ENST00000644794.1:n.2334-4C>T
ENST00000644881.2:c.12215-4C>T ENSP00000495022.2:n.12215-4C>T
ENST00000644888.1:n.466-4C>T
ENST00000645039.2:c.*66-4C>T ENSP00000495220.2:n.*66-4C>T
ENST00000645085.1:n.461-4C>T
ENST00000645149.2:c.12068-4C>T ENSP00000495944.2:n.12068-4C>T
ENST00000645697.1:n.2878-4C>T
ENST00000647204.2:n.1456-4C>T
ENST00000647366.1:n.5769-4C>T
ENST00000679486.1:c.12215-4C>T ENSP00000506688.1:n.12215-4C>T
ENST00000679720.1:c.12215-4C>T ENSP00000505938.1:n.12215-4C>T
ENST00000679910.1:c.*3297-4C>T ENSP00000506521.1:n.*3297-4C>T
ENST00000680120.1:c.12215-4C>T ENSP00000504863.1:n.12215-4C>T
ENST00000680200.1:c.*1474-4C>T ENSP00000506166.1:n.*1474-4C>T
ENST00000680313.1:c.12215-4C>T ENSP00000506208.1:n.12215-4C>T
ENST00000680423.1:c.*3946-4C>T ENSP00000505483.1:n.*3946-4C>T
ENST00000680715.1:c.12215-4C>T ENSP00000505332.1:n.12215-4C>T
ENST00000681010.1:c.12215-4C>T ENSP00000505201.1:n.12215-4C>T
ENST00000681066.1:c.*238-4C>T ENSP00000506344.1:n.*238-4C>T
ENST00000681283.1:c.*927-4C>T ENSP00000505667.1:n.*927-4C>T
ENST00000681536.1:c.*5414-4C>T ENSP00000505821.1:n.*5414-4C>T
ENST00000681574.1:c.12215-4C>T ENSP00000505523.1:n.12215-4C>T
ENST00000681822.1:c.12215-4C>T ENSP00000505744.1:n.12215-4C>T
ENST00000684561.1:c.*3674-4C>T ENSP00000506816.1:n.*3674-4C>T