Canonical Allele Identifier: CA487969422

Gene: DYNC1H1

Linked Data

• MyVariant Identifiers: chr14:g.102514855T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048518T>C , CM000676.2:g.102048518T>C	GRCh38
NC_000014.8:g.102514855T>C , CM000676.1:g.102514855T>C	GRCh37
NC_000014.7:g.101584608T>C	NCBI36
NG_008777.1:g.88991T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684561.1:c.*4680T>C	ENSP00000506816.1:n.*4680T>C
ENST00000360184.10:c.13221T>C MANE Select	ENSP00000348965.4:p.Asp4407=
ENST00000553701.1:n.346+1927A>G
ENST00000555062.2:n.294T>C
ENST00000556229.2:n.614T>C
ENST00000557242.1:n.328+4009A>G
ENST00000643437.1:n.3175T>C
ENST00000643591.1:n.1014T>C
ENST00000643729.1:n.854T>C
ENST00000643829.1:n.3177T>C
ENST00000644239.2:n.1357T>C
ENST00000644794.1:n.3827T>C
ENST00000644881.2:c.13221T>C	ENSP00000495022.2:p.Asp4407=
ENST00000645039.2:c.*1072T>C	ENSP00000495220.2:n.*1072T>C
ENST00000645085.1:n.1467T>C
ENST00000645149.2:c.13074T>C	ENSP00000495944.2:p.Asp4358=
ENST00000647143.1:n.856T>C
ENST00000647204.2:n.2557T>C
ENST00000647366.1:n.6775T>C
ENST00000679720.1:c.13221T>C	ENSP00000505938.1:p.Asp4407=
ENST00000679910.1:c.*4303T>C	ENSP00000506521.1:n.*4303T>C
ENST00000680120.1:c.13219-12T>C	ENSP00000504863.1:n.13219-12T>C
ENST00000680178.1:n.780T>C
ENST00000680200.1:c.*2480T>C	ENSP00000506166.1:n.*2480T>C
ENST00000680313.1:c.13221T>C	ENSP00000506208.1:p.Asp4407=
ENST00000680423.1:c.*4952T>C	ENSP00000505483.1:n.*4952T>C
ENST00000680715.1:c.*511T>C	ENSP00000505332.1:n.*511T>C
ENST00000681066.1:c.*1244T>C	ENSP00000506344.1:n.*1244T>C
ENST00000681283.1:c.*1933T>C	ENSP00000505667.1:n.*1933T>C
ENST00000681536.1:c.*6420T>C	ENSP00000505821.1:n.*6420T>C
ENST00000681574.1:c.13221T>C	ENSP00000505523.1:p.Asp4407=
ENST00000681822.1:c.13221T>C	ENSP00000505744.1:p.Asp4407=
ENST00000360184.8:c.13221T>C	ENSP00000348965.4:p.Asp4407=
ENST00000555062.1:n.271T>C
ENST00000556229.1:n.371T>C
NM_001376.4:c.13221T>C	NP_001367.2:p.Asp4407=
NM_001376.5:c.13221T>C MANE Select	NP_001367.2:p.Asp4407=