Canonical Allele Identifier: CA488186090

Gene: DYNC1H1

Linked Data

• gnomAD v4: 14-102039158-C-T
• MyVariant Identifiers: chr14:g.102505495C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039158C>T , CM000676.2:g.102039158C>T	GRCh38
NC_000014.8:g.102505495C>T , CM000676.1:g.102505495C>T	GRCh37
NC_000014.7:g.101575248C>T	NCBI36
NG_008777.1:g.79631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2823C>T	ENSP00000506816.1:n.*2823C>T
ENST00000360184.10:c.11364C>T MANE Select	ENSP00000348965.4:p.Asp3788=
ENST00000553701.1:n.347-2389G>A
ENST00000557242.1:n.329-2389G>A
ENST00000557551.1:n.112-2389G>A
ENST00000643437.1:n.1318C>T
ENST00000643829.1:n.1193C>T
ENST00000644794.1:n.1483C>T
ENST00000644881.2:c.11364C>T	ENSP00000495022.2:p.Asp3788=
ENST00000645039.2:c.11364C>T	ENSP00000495220.2:p.Asp3788=
ENST00000645149.2:c.11217C>T	ENSP00000495944.2:p.Asp3739=
ENST00000645697.1:n.2027C>T
ENST00000647204.2:n.605C>T
ENST00000647366.1:n.4918C>T
ENST00000679486.1:c.11364C>T	ENSP00000506688.1:p.Asp3788=
ENST00000679629.1:c.11364C>T	ENSP00000505589.1:p.Asp3788=
ENST00000679720.1:c.11364C>T	ENSP00000505938.1:p.Asp3788=
ENST00000679910.1:c.*2446C>T	ENSP00000506521.1:n.*2446C>T
ENST00000680120.1:c.11364C>T	ENSP00000504863.1:p.Asp3788=
ENST00000680200.1:c.*623C>T	ENSP00000506166.1:n.*623C>T
ENST00000680313.1:c.11364C>T	ENSP00000506208.1:p.Asp3788=
ENST00000680423.1:c.*3095C>T	ENSP00000505483.1:n.*3095C>T
ENST00000680715.1:c.11364C>T	ENSP00000505332.1:p.Asp3788=
ENST00000681010.1:c.11364C>T	ENSP00000505201.1:p.Asp3788=
ENST00000681066.1:c.11364C>T	ENSP00000506344.1:p.Asp3788=
ENST00000681123.1:c.11364C>T	ENSP00000506124.1:p.Asp3788=
ENST00000681283.1:c.*76C>T	ENSP00000505667.1:n.*76C>T
ENST00000681536.1:c.*4563C>T	ENSP00000505821.1:n.*4563C>T
ENST00000681574.1:c.11364C>T	ENSP00000505523.1:p.Asp3788=
ENST00000681822.1:c.11364C>T	ENSP00000505744.1:p.Asp3788=
ENST00000360184.8:c.11364C>T	ENSP00000348965.4:p.Asp3788=
NM_001376.4:c.11364C>T	NP_001367.2:p.Asp3788=
NM_001376.5:c.11364C>T MANE Select	NP_001367.2:p.Asp3788=