Canonical Allele Identifier: CA7354353

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102050157C>T , CM000676.2:g.102050157C>T	GRCh38
NC_000014.8:g.102516494C>T , CM000676.1:g.102516494C>T	GRCh37
NC_000014.7:g.101586247C>T	NCBI36
NG_008777.1:g.90630C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13771C>T MANE Select	NP_001367.2:p.Arg4591Cys
ENST00000360184.10:c.13771C>T MANE Select	ENSP00000348965.4:p.Arg4591Cys
NM_001376.4:c.13771C>T	NP_001367.2:p.Arg4591Cys
ENST00000360184.8:c.13771C>T	ENSP00000348965.4:p.Arg4591Cys
ENST00000553701.1:n.346+288G>A
ENST00000555062.1:n.952C>T
ENST00000555062.2:n.975C>T
ENST00000556229.2:n.1934C>T
ENST00000557242.1:n.328+2370G>A
ENST00000643437.1:n.4495C>T
ENST00000643591.1:n.2334C>T
ENST00000643729.1:n.2493C>T
ENST00000643829.1:n.3727C>T
ENST00000644239.2:n.1907C>T
ENST00000644881.2:c.13771C>T	ENSP00000495022.2:p.Arg4591Cys
ENST00000645039.2:c.*1622C>T	ENSP00000495220.2:n.*1622C>T
ENST00000645085.1:n.2017C>T
ENST00000645149.2:c.13624C>T	ENSP00000495944.2:p.Arg4542Cys
ENST00000645978.2:n.964C>T
ENST00000647143.1:n.2176C>T
ENST00000647204.2:n.3877C>T
ENST00000679720.1:c.13771C>T	ENSP00000505938.1:p.Arg4591Cys
ENST00000679910.1:c.*4853C>T	ENSP00000506521.1:n.*4853C>T
ENST00000680120.1:c.*530C>T	ENSP00000504863.1:n.*530C>T
ENST00000680178.1:n.2231C>T
ENST00000680200.1:c.*3030C>T	ENSP00000506166.1:n.*3030C>T
ENST00000680313.1:c.*517C>T	ENSP00000506208.1:n.*517C>T
ENST00000680423.1:c.*5502C>T	ENSP00000505483.1:n.*5502C>T
ENST00000680715.1:c.*1061C>T	ENSP00000505332.1:n.*1061C>T
ENST00000681066.1:c.*1794C>T	ENSP00000506344.1:n.*1794C>T
ENST00000681283.1:c.*2483C>T	ENSP00000505667.1:n.*2483C>T
ENST00000681536.1:c.*6970C>T	ENSP00000505821.1:n.*6970C>T
ENST00000681574.1:c.13771C>T	ENSP00000505523.1:p.Arg4591Cys
ENST00000681822.1:c.*255C>T	ENSP00000505744.1:n.*255C>T
ENST00000684561.1:c.*5230C>T	ENSP00000506816.1:n.*5230C>T