Canonical Allele Identifier: CA391053403

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2582561
• ClinVar RCV Id: RCV003333565 ; RCV003333567 ; RCV003333566
• MyVariant Identifiers: chr14:g.102476350G>C (hg19) ; chr14:g.102010013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102010013G>C , CM000676.2:g.102010013G>C	GRCh38
NC_000014.8:g.102476350G>C , CM000676.1:g.102476350G>C	GRCh37
NC_000014.7:g.101546103G>C	NCBI36
NG_008777.1:g.50486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.6148G>C	ENSP00000506816.1:p.Ala2050Pro
ENST00000360184.10:c.6148G>C MANE Select	ENSP00000348965.4:p.Ala2050Pro
ENST00000643508.2:c.6148G>C	ENSP00000495528.2:p.Ala2050Pro
ENST00000643565.1:n.694G>C
ENST00000643684.1:n.6345G>C
ENST00000643764.1:n.260G>C
ENST00000644206.1:n.632G>C
ENST00000644881.2:c.6148G>C	ENSP00000495022.2:p.Ala2050Pro
ENST00000645039.2:c.6148G>C	ENSP00000495220.2:p.Ala2050Pro
ENST00000645114.2:c.6148G>C	ENSP00000495884.2:p.Ala2050Pro
ENST00000645149.2:c.6148G>C	ENSP00000495944.2:p.Ala2050Pro
ENST00000679486.1:c.6148G>C	ENSP00000506688.1:p.Ala2050Pro
ENST00000679629.1:c.6148G>C	ENSP00000505589.1:p.Ala2050Pro
ENST00000679720.1:c.6148G>C	ENSP00000505938.1:p.Ala2050Pro
ENST00000679910.1:c.6148G>C	ENSP00000506521.1:p.Ala2050Pro
ENST00000680120.1:c.6148G>C	ENSP00000504863.1:p.Ala2050Pro
ENST00000680137.1:c.6148G>C	ENSP00000505294.1:p.Ala2050Pro
ENST00000680200.1:c.6148G>C	ENSP00000506166.1:p.Ala2050Pro
ENST00000680313.1:c.6148G>C	ENSP00000506208.1:p.Ala2050Pro
ENST00000680423.1:c.6148G>C	ENSP00000505483.1:p.Ala2050Pro
ENST00000680715.1:c.6148G>C	ENSP00000505332.1:p.Ala2050Pro
ENST00000680808.1:c.6148G>C	ENSP00000506446.1:p.Ala2050Pro
ENST00000680874.1:c.6148G>C	ENSP00000504911.1:p.Ala2050Pro
ENST00000681010.1:c.6148G>C	ENSP00000505201.1:p.Ala2050Pro
ENST00000681066.1:c.6148G>C	ENSP00000506344.1:p.Ala2050Pro
ENST00000681123.1:c.6148G>C	ENSP00000506124.1:p.Ala2050Pro
ENST00000681283.1:c.6148G>C	ENSP00000505667.1:p.Ala2050Pro
ENST00000681311.1:c.6148G>C	ENSP00000505519.1:p.Ala2050Pro
ENST00000681536.1:c.6148G>C	ENSP00000505821.1:p.Ala2050Pro
ENST00000681574.1:c.6148G>C	ENSP00000505523.1:p.Ala2050Pro
ENST00000681822.1:c.6148G>C	ENSP00000505744.1:p.Ala2050Pro
ENST00000681859.1:c.6148G>C	ENSP00000505467.1:p.Ala2050Pro
ENST00000360184.8:c.6148G>C	ENSP00000348965.4:p.Ala2050Pro
NM_001376.4:c.6148G>C	NP_001367.2:p.Ala2050Pro
NM_001376.5:c.6148G>C MANE Select	NP_001367.2:p.Ala2050Pro