Canonical Allele Identifier: CA7354204

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048600G>A , CM000676.2:g.102048600G>A	GRCh38
NC_000014.8:g.102514937G>A , CM000676.1:g.102514937G>A	GRCh37
NC_000014.7:g.101584690G>A	NCBI36
NG_008777.1:g.89073G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13303G>A MANE Select	NP_001367.2:p.Val4435Ile
ENST00000360184.10:c.13303G>A MANE Select	ENSP00000348965.4:p.Val4435Ile
NM_001376.4:c.13303G>A	NP_001367.2:p.Val4435Ile
ENST00000360184.8:c.13303G>A	ENSP00000348965.4:p.Val4435Ile
ENST00000553701.1:n.346+1845C>T
ENST00000555062.1:n.353G>A
ENST00000555062.2:n.376G>A
ENST00000556229.1:n.453G>A
ENST00000556229.2:n.696G>A
ENST00000557242.1:n.328+3927C>T
ENST00000643437.1:n.3257G>A
ENST00000643591.1:n.1096G>A
ENST00000643729.1:n.936G>A
ENST00000643829.1:n.3259G>A
ENST00000644239.2:n.1439G>A
ENST00000644794.1:n.3909G>A
ENST00000644881.2:c.13303G>A	ENSP00000495022.2:p.Val4435Ile
ENST00000645039.2:c.*1154G>A	ENSP00000495220.2:n.*1154G>A
ENST00000645085.1:n.1549G>A
ENST00000645149.2:c.13156G>A	ENSP00000495944.2:p.Val4386Ile
ENST00000647143.1:n.938G>A
ENST00000647204.2:n.2639G>A
ENST00000647366.1:n.6857G>A
ENST00000679720.1:c.13303G>A	ENSP00000505938.1:p.Val4435Ile
ENST00000679910.1:c.*4385G>A	ENSP00000506521.1:n.*4385G>A
ENST00000680120.1:c.*62G>A	ENSP00000504863.1:n.*62G>A
ENST00000680178.1:n.862G>A
ENST00000680200.1:c.*2562G>A	ENSP00000506166.1:n.*2562G>A
ENST00000680313.1:c.13303G>A	ENSP00000506208.1:p.Val4435Ile
ENST00000680423.1:c.*5034G>A	ENSP00000505483.1:n.*5034G>A
ENST00000680715.1:c.*593G>A	ENSP00000505332.1:n.*593G>A
ENST00000681066.1:c.*1326G>A	ENSP00000506344.1:n.*1326G>A
ENST00000681283.1:c.*2015G>A	ENSP00000505667.1:n.*2015G>A
ENST00000681536.1:c.*6502G>A	ENSP00000505821.1:n.*6502G>A
ENST00000681574.1:c.13303G>A	ENSP00000505523.1:p.Val4435Ile
ENST00000681822.1:c.13303G>A	ENSP00000505744.1:p.Val4435Ile
ENST00000684561.1:c.*4762G>A	ENSP00000506816.1:n.*4762G>A