Canonical Allele Identifier: CA7353672

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs367804580
• ExAC: 14:102505943 T / C
• gnomAD v2: 14-102505943-T-C
• gnomAD v3: 14-102039606-T-C
• gnomAD v4: 14-102039606-T-C
• MyVariant Identifiers: chr14:g.102505943T>C (hg19) ; chr14:g.102505943_102505944delinsCG (hg19) ; chr14:g.102039606T>C (hg38) ; chr14:g.102039606_102039607delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039606T>C , CM000676.2:g.102039606T>C	GRCh38
NC_000014.8:g.102505943T>C , CM000676.1:g.102505943T>C	GRCh37
NC_000014.7:g.101575696T>C	NCBI36
NG_008777.1:g.80079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3055-32T>C	ENSP00000506816.1:n.*3055-32T>C
ENST00000360184.10:c.11596-32T>C MANE Select	ENSP00000348965.4:n.11596-32T>C
ENST00000553701.1:n.347-2837A>G
ENST00000556139.2:n.116T>C
ENST00000557242.1:n.329-2837A>G
ENST00000557551.1:n.112-2837A>G
ENST00000643437.1:n.1550-32T>C
ENST00000643829.1:n.1425-32T>C
ENST00000644794.1:n.1715-32T>C
ENST00000644881.2:c.11596-32T>C	ENSP00000495022.2:n.11596-32T>C
ENST00000645039.2:c.11596-32T>C	ENSP00000495220.2:n.11596-32T>C
ENST00000645085.1:n.61T>C
ENST00000645149.2:c.11449-32T>C	ENSP00000495944.2:n.11449-32T>C
ENST00000645697.1:n.2259-32T>C
ENST00000647204.2:n.837-32T>C
ENST00000647366.1:n.5150-32T>C
ENST00000679486.1:c.11596-32T>C	ENSP00000506688.1:n.11596-32T>C
ENST00000679629.1:c.11596-32T>C	ENSP00000505589.1:n.11596-32T>C
ENST00000679720.1:c.11596-32T>C	ENSP00000505938.1:n.11596-32T>C
ENST00000679910.1:c.*2678-32T>C	ENSP00000506521.1:n.*2678-32T>C
ENST00000680120.1:c.11596-32T>C	ENSP00000504863.1:n.11596-32T>C
ENST00000680200.1:c.*855-32T>C	ENSP00000506166.1:n.*855-32T>C
ENST00000680313.1:c.11596-32T>C	ENSP00000506208.1:n.11596-32T>C
ENST00000680423.1:c.*3327-32T>C	ENSP00000505483.1:n.*3327-32T>C
ENST00000680715.1:c.11596-32T>C	ENSP00000505332.1:n.11596-32T>C
ENST00000681010.1:c.11596-32T>C	ENSP00000505201.1:n.11596-32T>C
ENST00000681066.1:c.11596-32T>C	ENSP00000506344.1:n.11596-32T>C
ENST00000681123.1:c.11596-32T>C	ENSP00000506124.1:n.11596-32T>C
ENST00000681283.1:c.*308-32T>C	ENSP00000505667.1:n.*308-32T>C
ENST00000681536.1:c.*4795-32T>C	ENSP00000505821.1:n.*4795-32T>C
ENST00000681574.1:c.11596-32T>C	ENSP00000505523.1:n.11596-32T>C
ENST00000681822.1:c.11596-32T>C	ENSP00000505744.1:n.11596-32T>C
ENST00000360184.8:c.11596-32T>C	ENSP00000348965.4:n.11596-32T>C
ENST00000556139.1:n.116T>C
NM_001376.4:c.11596-32T>C	NP_001367.2:n.11596-32T>C
NM_001376.5:c.11596-32T>C MANE Select	NP_001367.2:n.11596-32T>C