Canonical Allele Identifier: CA391034823

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs1567021445
• gnomAD v4: 14-102039541-T-C
• MyVariant Identifiers: chr14:g.102505878T>C (hg19) ; chr14:g.102039541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039541T>C , CM000676.2:g.102039541T>C	GRCh38
NC_000014.8:g.102505878T>C , CM000676.1:g.102505878T>C	GRCh37
NC_000014.7:g.101575631T>C	NCBI36
NG_008777.1:g.80014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3049T>C	ENSP00000506816.1:n.*3049T>C
ENST00000360184.10:c.11590T>C MANE Select	ENSP00000348965.4:p.Phe3864Leu
ENST00000553701.1:n.347-2772A>G
ENST00000556139.2:n.51T>C
ENST00000557242.1:n.329-2772A>G
ENST00000557551.1:n.112-2772A>G
ENST00000643437.1:n.1544T>C
ENST00000643829.1:n.1419T>C
ENST00000644794.1:n.1709T>C
ENST00000644881.2:c.11590T>C	ENSP00000495022.2:p.Phe3864Leu
ENST00000645039.2:c.11590T>C	ENSP00000495220.2:p.Phe3864Leu
ENST00000645149.2:c.11443T>C	ENSP00000495944.2:p.Phe3815Leu
ENST00000645697.1:n.2253T>C
ENST00000647204.2:n.831T>C
ENST00000647366.1:n.5144T>C
ENST00000679486.1:c.11590T>C	ENSP00000506688.1:p.Phe3864Leu
ENST00000679629.1:c.11590T>C	ENSP00000505589.1:p.Phe3864Leu
ENST00000679720.1:c.11590T>C	ENSP00000505938.1:p.Phe3864Leu
ENST00000679910.1:c.*2672T>C	ENSP00000506521.1:n.*2672T>C
ENST00000680120.1:c.11590T>C	ENSP00000504863.1:p.Phe3864Leu
ENST00000680200.1:c.*849T>C	ENSP00000506166.1:n.*849T>C
ENST00000680313.1:c.11590T>C	ENSP00000506208.1:p.Phe3864Leu
ENST00000680423.1:c.*3321T>C	ENSP00000505483.1:n.*3321T>C
ENST00000680715.1:c.11590T>C	ENSP00000505332.1:p.Phe3864Leu
ENST00000681010.1:c.11590T>C	ENSP00000505201.1:p.Phe3864Leu
ENST00000681066.1:c.11590T>C	ENSP00000506344.1:p.Phe3864Leu
ENST00000681123.1:c.11590T>C	ENSP00000506124.1:p.Phe3864Leu
ENST00000681283.1:c.*302T>C	ENSP00000505667.1:n.*302T>C
ENST00000681536.1:c.*4789T>C	ENSP00000505821.1:n.*4789T>C
ENST00000681574.1:c.11590T>C	ENSP00000505523.1:p.Phe3864Leu
ENST00000681822.1:c.11590T>C	ENSP00000505744.1:p.Phe3864Leu
ENST00000360184.8:c.11590T>C	ENSP00000348965.4:p.Phe3864Leu
ENST00000556139.1:n.51T>C
NM_001376.4:c.11590T>C	NP_001367.2:p.Phe3864Leu
NM_001376.5:c.11590T>C MANE Select	NP_001367.2:p.Phe3864Leu