Canonical Allele Identifier: CA7353985

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102044014C>T , CM000676.2:g.102044014C>T	GRCh38
NC_000014.8:g.102510351C>T , CM000676.1:g.102510351C>T	GRCh37
NC_000014.7:g.101580104C>T	NCBI36
NG_008777.1:g.84487C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.12653C>T MANE Select	NP_001367.2:p.Thr4218Met
ENST00000360184.10:c.12653C>T MANE Select	ENSP00000348965.4:p.Thr4218Met
NM_001376.4:c.12653C>T	NP_001367.2:p.Thr4218Met
ENST00000360184.8:c.12653C>T	ENSP00000348965.4:p.Thr4218Met
ENST00000553701.1:n.346+6431G>A
ENST00000557242.1:n.329-7245G>A
ENST00000557551.1:n.111+279G>A
ENST00000642716.1:n.690C>T
ENST00000643437.1:n.2607C>T
ENST00000643591.1:n.446C>T
ENST00000643829.1:n.2609C>T
ENST00000644239.2:n.789C>T
ENST00000644794.1:n.2772C>T
ENST00000644881.2:c.12653C>T	ENSP00000495022.2:p.Thr4218Met
ENST00000645039.2:c.*504C>T	ENSP00000495220.2:n.*504C>T
ENST00000645085.1:n.899C>T
ENST00000645149.2:c.12506C>T	ENSP00000495944.2:p.Thr4169Met
ENST00000646418.1:n.882C>T
ENST00000647204.2:n.1989C>T
ENST00000647366.1:n.6207C>T
ENST00000679486.1:c.*641C>T	ENSP00000506688.1:n.*641C>T
ENST00000679720.1:c.12653C>T	ENSP00000505938.1:p.Thr4218Met
ENST00000679910.1:c.*3735C>T	ENSP00000506521.1:n.*3735C>T
ENST00000680120.1:c.12653C>T	ENSP00000504863.1:p.Thr4218Met
ENST00000680200.1:c.*1912C>T	ENSP00000506166.1:n.*1912C>T
ENST00000680313.1:c.12653C>T	ENSP00000506208.1:p.Thr4218Met
ENST00000680423.1:c.*4384C>T	ENSP00000505483.1:n.*4384C>T
ENST00000680715.1:c.12653C>T	ENSP00000505332.1:p.Thr4218Met
ENST00000681010.1:c.*336C>T	ENSP00000505201.1:n.*336C>T
ENST00000681066.1:c.*676C>T	ENSP00000506344.1:n.*676C>T
ENST00000681283.1:c.*1365C>T	ENSP00000505667.1:n.*1365C>T
ENST00000681536.1:c.*5852C>T	ENSP00000505821.1:n.*5852C>T
ENST00000681574.1:c.12653C>T	ENSP00000505523.1:p.Thr4218Met
ENST00000681822.1:c.12653C>T	ENSP00000505744.1:p.Thr4218Met
ENST00000684561.1:c.*4112C>T	ENSP00000506816.1:n.*4112C>T