Canonical Allele Identifier: CA391048007

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048562A>C , CM000676.2:g.102048562A>C	GRCh38
NC_000014.8:g.102514899A>C , CM000676.1:g.102514899A>C	GRCh37
NC_000014.7:g.101584652A>C	NCBI36
NG_008777.1:g.89035A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13265A>C MANE Select	NP_001367.2:p.Lys4422Thr
ENST00000360184.10:c.13265A>C MANE Select	ENSP00000348965.4:p.Lys4422Thr
NM_001376.4:c.13265A>C	NP_001367.2:p.Lys4422Thr
ENST00000360184.8:c.13265A>C	ENSP00000348965.4:p.Lys4422Thr
ENST00000553701.1:n.346+1883T>G
ENST00000555062.1:n.315A>C
ENST00000555062.2:n.338A>C
ENST00000556229.1:n.415A>C
ENST00000556229.2:n.658A>C
ENST00000557242.1:n.328+3965T>G
ENST00000643437.1:n.3219A>C
ENST00000643591.1:n.1058A>C
ENST00000643729.1:n.898A>C
ENST00000643829.1:n.3221A>C
ENST00000644239.2:n.1401A>C
ENST00000644794.1:n.3871A>C
ENST00000644881.2:c.13265A>C	ENSP00000495022.2:p.Lys4422Thr
ENST00000645039.2:c.*1116A>C	ENSP00000495220.2:n.*1116A>C
ENST00000645085.1:n.1511A>C
ENST00000645149.2:c.13118A>C	ENSP00000495944.2:p.Lys4373Thr
ENST00000647143.1:n.900A>C
ENST00000647204.2:n.2601A>C
ENST00000647366.1:n.6819A>C
ENST00000679720.1:c.13265A>C	ENSP00000505938.1:p.Lys4422Thr
ENST00000679910.1:c.*4347A>C	ENSP00000506521.1:n.*4347A>C
ENST00000680120.1:c.*24A>C	ENSP00000504863.1:n.*24A>C
ENST00000680178.1:n.824A>C
ENST00000680200.1:c.*2524A>C	ENSP00000506166.1:n.*2524A>C
ENST00000680313.1:c.13265A>C	ENSP00000506208.1:p.Lys4422Thr
ENST00000680423.1:c.*4996A>C	ENSP00000505483.1:n.*4996A>C
ENST00000680715.1:c.*555A>C	ENSP00000505332.1:n.*555A>C
ENST00000681066.1:c.*1288A>C	ENSP00000506344.1:n.*1288A>C
ENST00000681283.1:c.*1977A>C	ENSP00000505667.1:n.*1977A>C
ENST00000681536.1:c.*6464A>C	ENSP00000505821.1:n.*6464A>C
ENST00000681574.1:c.13265A>C	ENSP00000505523.1:p.Lys4422Thr
ENST00000681822.1:c.13265A>C	ENSP00000505744.1:p.Lys4422Thr
ENST00000684561.1:c.*4724A>C	ENSP00000506816.1:n.*4724A>C