Canonical Allele Identifier: CA7353633

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2441055
• ClinVar RCV Id: RCV003146884 ; RCV003643041
• dbSNP Id: rs749946187
• ExAC: 14:102505819 C / T
• gnomAD v2: 14-102505819-C-T
• gnomAD v3: 14-102039482-C-T
• gnomAD v4: 14-102039482-C-T
• COSMIC: COSM1172186
• MyVariant Identifiers: chr14:g.102505819C>T (hg19) ; chr14:g.102039482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039482C>T , CM000676.2:g.102039482C>T	GRCh38
NC_000014.8:g.102505819C>T , CM000676.1:g.102505819C>T	GRCh37
NC_000014.7:g.101575572C>T	NCBI36
NG_008777.1:g.79955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2990C>T	ENSP00000506816.1:n.*2990C>T
ENST00000360184.10:c.11531C>T MANE Select	ENSP00000348965.4:p.Pro3844Leu
ENST00000553701.1:n.347-2713G>A
ENST00000557242.1:n.329-2713G>A
ENST00000557551.1:n.112-2713G>A
ENST00000643437.1:n.1485C>T
ENST00000643829.1:n.1360C>T
ENST00000644794.1:n.1650C>T
ENST00000644881.2:c.11531C>T	ENSP00000495022.2:p.Pro3844Leu
ENST00000645039.2:c.11531C>T	ENSP00000495220.2:p.Pro3844Leu
ENST00000645149.2:c.11384C>T	ENSP00000495944.2:p.Pro3795Leu
ENST00000645697.1:n.2194C>T
ENST00000647204.2:n.772C>T
ENST00000647366.1:n.5085C>T
ENST00000679486.1:c.11531C>T	ENSP00000506688.1:p.Pro3844Leu
ENST00000679629.1:c.11531C>T	ENSP00000505589.1:p.Pro3844Leu
ENST00000679720.1:c.11531C>T	ENSP00000505938.1:p.Pro3844Leu
ENST00000679910.1:c.*2613C>T	ENSP00000506521.1:n.*2613C>T
ENST00000680120.1:c.11531C>T	ENSP00000504863.1:p.Pro3844Leu
ENST00000680200.1:c.*790C>T	ENSP00000506166.1:n.*790C>T
ENST00000680313.1:c.11531C>T	ENSP00000506208.1:p.Pro3844Leu
ENST00000680423.1:c.*3262C>T	ENSP00000505483.1:n.*3262C>T
ENST00000680715.1:c.11531C>T	ENSP00000505332.1:p.Pro3844Leu
ENST00000681010.1:c.11531C>T	ENSP00000505201.1:p.Pro3844Leu
ENST00000681066.1:c.11531C>T	ENSP00000506344.1:p.Pro3844Leu
ENST00000681123.1:c.11531C>T	ENSP00000506124.1:p.Pro3844Leu
ENST00000681283.1:c.*243C>T	ENSP00000505667.1:n.*243C>T
ENST00000681536.1:c.*4730C>T	ENSP00000505821.1:n.*4730C>T
ENST00000681574.1:c.11531C>T	ENSP00000505523.1:p.Pro3844Leu
ENST00000681822.1:c.11531C>T	ENSP00000505744.1:p.Pro3844Leu
ENST00000360184.8:c.11531C>T	ENSP00000348965.4:p.Pro3844Leu
NM_001376.4:c.11531C>T	NP_001367.2:p.Pro3844Leu
NM_001376.5:c.11531C>T MANE Select	NP_001367.2:p.Pro3844Leu