Canonical Allele Identifier: CA7354197

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048576G>A , CM000676.2:g.102048576G>A	GRCh38
NC_000014.8:g.102514913G>A , CM000676.1:g.102514913G>A	GRCh37
NC_000014.7:g.101584666G>A	NCBI36
NG_008777.1:g.89049G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13279G>A MANE Select	NP_001367.2:p.Val4427Ile
ENST00000360184.10:c.13279G>A MANE Select	ENSP00000348965.4:p.Val4427Ile
NM_001376.4:c.13279G>A	NP_001367.2:p.Val4427Ile
ENST00000360184.8:c.13279G>A	ENSP00000348965.4:p.Val4427Ile
ENST00000553701.1:n.346+1869C>T
ENST00000555062.1:n.329G>A
ENST00000555062.2:n.352G>A
ENST00000556229.1:n.429G>A
ENST00000556229.2:n.672G>A
ENST00000557242.1:n.328+3951C>T
ENST00000643437.1:n.3233G>A
ENST00000643591.1:n.1072G>A
ENST00000643729.1:n.912G>A
ENST00000643829.1:n.3235G>A
ENST00000644239.2:n.1415G>A
ENST00000644794.1:n.3885G>A
ENST00000644881.2:c.13279G>A	ENSP00000495022.2:p.Val4427Ile
ENST00000645039.2:c.*1130G>A	ENSP00000495220.2:n.*1130G>A
ENST00000645085.1:n.1525G>A
ENST00000645149.2:c.13132G>A	ENSP00000495944.2:p.Val4378Ile
ENST00000647143.1:n.914G>A
ENST00000647204.2:n.2615G>A
ENST00000647366.1:n.6833G>A
ENST00000679720.1:c.13279G>A	ENSP00000505938.1:p.Val4427Ile
ENST00000679910.1:c.*4361G>A	ENSP00000506521.1:n.*4361G>A
ENST00000680120.1:c.*38G>A	ENSP00000504863.1:n.*38G>A
ENST00000680178.1:n.838G>A
ENST00000680200.1:c.*2538G>A	ENSP00000506166.1:n.*2538G>A
ENST00000680313.1:c.13279G>A	ENSP00000506208.1:p.Val4427Ile
ENST00000680423.1:c.*5010G>A	ENSP00000505483.1:n.*5010G>A
ENST00000680715.1:c.*569G>A	ENSP00000505332.1:n.*569G>A
ENST00000681066.1:c.*1302G>A	ENSP00000506344.1:n.*1302G>A
ENST00000681283.1:c.*1991G>A	ENSP00000505667.1:n.*1991G>A
ENST00000681536.1:c.*6478G>A	ENSP00000505821.1:n.*6478G>A
ENST00000681574.1:c.13279G>A	ENSP00000505523.1:p.Val4427Ile
ENST00000681822.1:c.13279G>A	ENSP00000505744.1:p.Val4427Ile
ENST00000684561.1:c.*4738G>A	ENSP00000506816.1:n.*4738G>A