Canonical Allele Identifier: CA266987719

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs939200131
• gnomAD v4: 14-102048413-A-C
• MyVariant Identifiers: chr14:g.102514750A>C (hg19) ; chr14:g.102048413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102048413A>C , CM000676.2:g.102048413A>C	GRCh38
NC_000014.8:g.102514750A>C , CM000676.1:g.102514750A>C	GRCh37
NC_000014.7:g.101584503A>C	NCBI36
NG_008777.1:g.88886A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684561.1:c.*4678-103A>C	ENSP00000506816.1:n.*4678-103A>C
ENST00000360184.10:c.13219-103A>C MANE Select	ENSP00000348965.4:n.13219-103A>C
ENST00000553701.1:n.346+2032T>G
ENST00000555062.2:n.292-103A>C
ENST00000556229.2:n.612-103A>C
ENST00000557242.1:n.328+4114T>G
ENST00000643437.1:n.3173-103A>C
ENST00000643591.1:n.1012-103A>C
ENST00000643729.1:n.749A>C
ENST00000643829.1:n.3175-103A>C
ENST00000644239.2:n.1355-103A>C
ENST00000644794.1:n.3722A>C
ENST00000644881.2:c.13219-103A>C	ENSP00000495022.2:n.13219-103A>C
ENST00000645039.2:c.*1070-103A>C	ENSP00000495220.2:n.*1070-103A>C
ENST00000645085.1:n.1465-103A>C
ENST00000645149.2:c.13072-103A>C	ENSP00000495944.2:n.13072-103A>C
ENST00000647143.1:n.751A>C
ENST00000647204.2:n.2555-103A>C
ENST00000647366.1:n.6773-103A>C
ENST00000679720.1:c.13219-103A>C	ENSP00000505938.1:n.13219-103A>C
ENST00000679910.1:c.*4301-103A>C	ENSP00000506521.1:n.*4301-103A>C
ENST00000680120.1:c.13219-117A>C	ENSP00000504863.1:n.13219-117A>C
ENST00000680178.1:n.675A>C
ENST00000680200.1:c.*2478-103A>C	ENSP00000506166.1:n.*2478-103A>C
ENST00000680313.1:c.13219-103A>C	ENSP00000506208.1:n.13219-103A>C
ENST00000680423.1:c.*4950-103A>C	ENSP00000505483.1:n.*4950-103A>C
ENST00000680715.1:c.*509-103A>C	ENSP00000505332.1:n.*509-103A>C
ENST00000681066.1:c.*1242-103A>C	ENSP00000506344.1:n.*1242-103A>C
ENST00000681283.1:c.*1931-103A>C	ENSP00000505667.1:n.*1931-103A>C
ENST00000681536.1:c.*6418-103A>C	ENSP00000505821.1:n.*6418-103A>C
ENST00000681574.1:c.13219-103A>C	ENSP00000505523.1:n.13219-103A>C
ENST00000681822.1:c.13219-103A>C	ENSP00000505744.1:n.13219-103A>C
ENST00000360184.8:c.13219-103A>C	ENSP00000348965.4:n.13219-103A>C
ENST00000555062.1:n.269-103A>C
ENST00000556229.1:n.369-103A>C
NM_001376.4:c.13219-103A>C	NP_001367.2:n.13219-103A>C
NM_001376.5:c.13219-103A>C MANE Select	NP_001367.2:n.13219-103A>C