Canonical Allele Identifier: CA7354150

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102047942C>T , CM000676.2:g.102047942C>T	GRCh38
NC_000014.8:g.102514279C>T , CM000676.1:g.102514279C>T	GRCh37
NC_000014.7:g.101584032C>T	NCBI36
NG_008777.1:g.88415C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13132C>T MANE Select	NP_001367.2:p.Arg4378Trp
ENST00000360184.10:c.13132C>T MANE Select	ENSP00000348965.4:p.Arg4378Trp
NM_001376.4:c.13132C>T	NP_001367.2:p.Arg4378Trp
ENST00000360184.8:c.13132C>T	ENSP00000348965.4:p.Arg4378Trp
ENST00000553701.1:n.346+2503G>A
ENST00000555062.1:n.182C>T
ENST00000555062.2:n.205C>T
ENST00000556229.1:n.282C>T
ENST00000556229.2:n.525C>T
ENST00000557242.1:n.328+4585G>A
ENST00000643437.1:n.3086C>T
ENST00000643591.1:n.925C>T
ENST00000643729.1:n.278C>T
ENST00000643829.1:n.3088C>T
ENST00000644239.2:n.1268C>T
ENST00000644794.1:n.3251C>T
ENST00000644881.2:c.13132C>T	ENSP00000495022.2:p.Arg4378Trp
ENST00000645039.2:c.*983C>T	ENSP00000495220.2:n.*983C>T
ENST00000645085.1:n.1378C>T
ENST00000645149.2:c.12985C>T	ENSP00000495944.2:p.Arg4329Trp
ENST00000647143.1:n.280C>T
ENST00000647204.2:n.2468C>T
ENST00000647366.1:n.6686C>T
ENST00000679720.1:c.13132C>T	ENSP00000505938.1:p.Arg4378Trp
ENST00000679910.1:c.*4214C>T	ENSP00000506521.1:n.*4214C>T
ENST00000680120.1:c.13132C>T	ENSP00000504863.1:p.Arg4378Trp
ENST00000680178.1:n.204C>T
ENST00000680200.1:c.*2391C>T	ENSP00000506166.1:n.*2391C>T
ENST00000680313.1:c.13132C>T	ENSP00000506208.1:p.Arg4378Trp
ENST00000680423.1:c.*4863C>T	ENSP00000505483.1:n.*4863C>T
ENST00000680715.1:c.*422C>T	ENSP00000505332.1:n.*422C>T
ENST00000681066.1:c.*1155C>T	ENSP00000506344.1:n.*1155C>T
ENST00000681283.1:c.*1844C>T	ENSP00000505667.1:n.*1844C>T
ENST00000681536.1:c.*6331C>T	ENSP00000505821.1:n.*6331C>T
ENST00000681574.1:c.13132C>T	ENSP00000505523.1:p.Arg4378Trp
ENST00000681822.1:c.13132C>T	ENSP00000505744.1:p.Arg4378Trp
ENST00000684561.1:c.*4591C>T	ENSP00000506816.1:n.*4591C>T