Canonical Allele Identifier: CA391033755

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs1339000930
• gnomAD v2: 14-102505530-A-G
• gnomAD v4: 14-102039193-A-G
• MyVariant Identifiers: chr14:g.102505530A>G (hg19) ; chr14:g.102039193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039193A>G , CM000676.2:g.102039193A>G	GRCh38
NC_000014.8:g.102505530A>G , CM000676.1:g.102505530A>G	GRCh37
NC_000014.7:g.101575283A>G	NCBI36
NG_008777.1:g.79666A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2858A>G	ENSP00000506816.1:n.*2858A>G
ENST00000360184.10:c.11399A>G MANE Select	ENSP00000348965.4:p.Gln3800Arg
ENST00000553701.1:n.347-2424T>C
ENST00000557242.1:n.329-2424T>C
ENST00000557551.1:n.112-2424T>C
ENST00000643437.1:n.1353A>G
ENST00000643829.1:n.1228A>G
ENST00000644794.1:n.1518A>G
ENST00000644881.2:c.11399A>G	ENSP00000495022.2:p.Gln3800Arg
ENST00000645039.2:c.11399A>G	ENSP00000495220.2:p.Gln3800Arg
ENST00000645149.2:c.11252A>G	ENSP00000495944.2:p.Gln3751Arg
ENST00000645697.1:n.2062A>G
ENST00000647204.2:n.640A>G
ENST00000647366.1:n.4953A>G
ENST00000679486.1:c.11399A>G	ENSP00000506688.1:p.Gln3800Arg
ENST00000679629.1:c.11399A>G	ENSP00000505589.1:p.Gln3800Arg
ENST00000679720.1:c.11399A>G	ENSP00000505938.1:p.Gln3800Arg
ENST00000679910.1:c.*2481A>G	ENSP00000506521.1:n.*2481A>G
ENST00000680120.1:c.11399A>G	ENSP00000504863.1:p.Gln3800Arg
ENST00000680200.1:c.*658A>G	ENSP00000506166.1:n.*658A>G
ENST00000680313.1:c.11399A>G	ENSP00000506208.1:p.Gln3800Arg
ENST00000680423.1:c.*3130A>G	ENSP00000505483.1:n.*3130A>G
ENST00000680715.1:c.11399A>G	ENSP00000505332.1:p.Gln3800Arg
ENST00000681010.1:c.11399A>G	ENSP00000505201.1:p.Gln3800Arg
ENST00000681066.1:c.11399A>G	ENSP00000506344.1:p.Gln3800Arg
ENST00000681123.1:c.11399A>G	ENSP00000506124.1:p.Gln3800Arg
ENST00000681283.1:c.*111A>G	ENSP00000505667.1:n.*111A>G
ENST00000681536.1:c.*4598A>G	ENSP00000505821.1:n.*4598A>G
ENST00000681574.1:c.11399A>G	ENSP00000505523.1:p.Gln3800Arg
ENST00000681822.1:c.11399A>G	ENSP00000505744.1:p.Gln3800Arg
ENST00000360184.8:c.11399A>G	ENSP00000348965.4:p.Gln3800Arg
NM_001376.4:c.11399A>G	NP_001367.2:p.Gln3800Arg
NM_001376.5:c.11399A>G MANE Select	NP_001367.2:p.Gln3800Arg