Canonical Allele Identifier: CA7353581

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 391785
• ClinVar RCV Id: RCV000439121 ; RCV000529974 ; RCV001173878
• dbSNP Id: rs182767009
• ExAC: 14:102505531 G / A
• gnomAD v2: 14-102505531-G-A
• gnomAD v3: 14-102039194-G-A
• gnomAD v4: 14-102039194-G-A
• MyVariant Identifiers: chr14:g.102505531G>A (hg19) ; chr14:g.102039194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039194G>A , CM000676.2:g.102039194G>A	GRCh38
NC_000014.8:g.102505531G>A , CM000676.1:g.102505531G>A	GRCh37
NC_000014.7:g.101575284G>A	NCBI36
NG_008777.1:g.79667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2859G>A	ENSP00000506816.1:n.*2859G>A
ENST00000360184.10:c.11400G>A MANE Select	ENSP00000348965.4:p.Gln3800=
ENST00000553701.1:n.347-2425C>T
ENST00000557242.1:n.329-2425C>T
ENST00000557551.1:n.112-2425C>T
ENST00000643437.1:n.1354G>A
ENST00000643829.1:n.1229G>A
ENST00000644794.1:n.1519G>A
ENST00000644881.2:c.11400G>A	ENSP00000495022.2:p.Gln3800=
ENST00000645039.2:c.11400G>A	ENSP00000495220.2:p.Gln3800=
ENST00000645149.2:c.11253G>A	ENSP00000495944.2:p.Gln3751=
ENST00000645697.1:n.2063G>A
ENST00000647204.2:n.641G>A
ENST00000647366.1:n.4954G>A
ENST00000679486.1:c.11400G>A	ENSP00000506688.1:p.Gln3800=
ENST00000679629.1:c.11400G>A	ENSP00000505589.1:p.Gln3800=
ENST00000679720.1:c.11400G>A	ENSP00000505938.1:p.Gln3800=
ENST00000679910.1:c.*2482G>A	ENSP00000506521.1:n.*2482G>A
ENST00000680120.1:c.11400G>A	ENSP00000504863.1:p.Gln3800=
ENST00000680200.1:c.*659G>A	ENSP00000506166.1:n.*659G>A
ENST00000680313.1:c.11400G>A	ENSP00000506208.1:p.Gln3800=
ENST00000680423.1:c.*3131G>A	ENSP00000505483.1:n.*3131G>A
ENST00000680715.1:c.11400G>A	ENSP00000505332.1:p.Gln3800=
ENST00000681010.1:c.11400G>A	ENSP00000505201.1:p.Gln3800=
ENST00000681066.1:c.11400G>A	ENSP00000506344.1:p.Gln3800=
ENST00000681123.1:c.11400G>A	ENSP00000506124.1:p.Gln3800=
ENST00000681283.1:c.*112G>A	ENSP00000505667.1:n.*112G>A
ENST00000681536.1:c.*4599G>A	ENSP00000505821.1:n.*4599G>A
ENST00000681574.1:c.11400G>A	ENSP00000505523.1:p.Gln3800=
ENST00000681822.1:c.11400G>A	ENSP00000505744.1:p.Gln3800=
ENST00000360184.8:c.11400G>A	ENSP00000348965.4:p.Gln3800=
NM_001376.4:c.11400G>A	NP_001367.2:p.Gln3800=
NM_001376.5:c.11400G>A MANE Select	NP_001367.2:p.Gln3800=