Canonical Allele Identifier: CA7353458

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102034364G>C , CM000676.2:g.102034364G>C	GRCh38
NC_000014.8:g.102500701G>C , CM000676.1:g.102500701G>C	GRCh37
NC_000014.7:g.101570454G>C	NCBI36
NG_008777.1:g.74837G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.10666G>C MANE Select	NP_001367.2:p.Ala3556Pro
ENST00000360184.10:c.10666G>C MANE Select	ENSP00000348965.4:p.Ala3556Pro
NM_001376.4:c.10666G>C	NP_001367.2:p.Ala3556Pro
ENST00000360184.8:c.10666G>C	ENSP00000348965.4:p.Ala3556Pro
ENST00000553423.1:c.92G>C
ENST00000556791.1:n.590G>C
ENST00000643437.1:n.620G>C
ENST00000643508.2:c.10666G>C	ENSP00000495528.2:p.Ala3556Pro
ENST00000643722.1:n.1425G>C
ENST00000643829.1:n.495G>C
ENST00000644881.2:c.10666G>C	ENSP00000495022.2:p.Ala3556Pro
ENST00000645039.2:c.10666G>C	ENSP00000495220.2:p.Ala3556Pro
ENST00000645149.2:c.10666G>C	ENSP00000495944.2:p.Ala3556Pro
ENST00000645697.1:n.1329G>C
ENST00000647307.1:n.1373G>C
ENST00000647366.1:n.4220G>C
ENST00000679486.1:c.10666G>C	ENSP00000506688.1:p.Ala3556Pro
ENST00000679629.1:c.10666G>C	ENSP00000505589.1:p.Ala3556Pro
ENST00000679720.1:c.10666G>C	ENSP00000505938.1:p.Ala3556Pro
ENST00000679910.1:c.*1748G>C	ENSP00000506521.1:n.*1748G>C
ENST00000680120.1:c.10666G>C	ENSP00000504863.1:p.Ala3556Pro
ENST00000680137.1:c.10666G>C	ENSP00000505294.1:p.Ala3556Pro
ENST00000680200.1:c.10656G>C	ENSP00000506166.1:p.Met3552Ile
ENST00000680313.1:c.10666G>C	ENSP00000506208.1:p.Ala3556Pro
ENST00000680423.1:c.*2397G>C	ENSP00000505483.1:n.*2397G>C
ENST00000680715.1:c.10666G>C	ENSP00000505332.1:p.Ala3556Pro
ENST00000680874.1:c.10626+176G>C	ENSP00000504911.1:n.10626+176G>C
ENST00000681010.1:c.10666G>C	ENSP00000505201.1:p.Ala3556Pro
ENST00000681066.1:c.10666G>C	ENSP00000506344.1:p.Ala3556Pro
ENST00000681123.1:c.10666G>C	ENSP00000506124.1:p.Ala3556Pro
ENST00000681283.1:c.10666G>C	ENSP00000505667.1:p.Ala3556Pro
ENST00000681536.1:c.*3865G>C	ENSP00000505821.1:n.*3865G>C
ENST00000681574.1:c.10666G>C	ENSP00000505523.1:p.Ala3556Pro
ENST00000681822.1:c.10666G>C	ENSP00000505744.1:p.Ala3556Pro
ENST00000684561.1:c.*2125G>C	ENSP00000506816.1:n.*2125G>C