Canonical Allele Identifier: CA7354241

Gene: DYNC1H1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102049475C>T , CM000676.2:g.102049475C>T	GRCh38
NC_000014.8:g.102515812C>T , CM000676.1:g.102515812C>T	GRCh37
NC_000014.7:g.101585565C>T	NCBI36
NG_008777.1:g.89948C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376.5:c.13408C>T MANE Select	NP_001367.2:p.Pro4470Ser
ENST00000360184.10:c.13408C>T MANE Select	ENSP00000348965.4:p.Pro4470Ser
NM_001376.4:c.13408C>T	NP_001367.2:p.Pro4470Ser
ENST00000360184.8:c.13408C>T	ENSP00000348965.4:p.Pro4470Ser
ENST00000553701.1:n.346+970G>A
ENST00000555062.1:n.458C>T
ENST00000555062.2:n.481C>T
ENST00000556229.2:n.1571C>T
ENST00000557242.1:n.328+3052G>A
ENST00000643437.1:n.4132C>T
ENST00000643591.1:n.1971C>T
ENST00000643729.1:n.1811C>T
ENST00000643829.1:n.3364C>T
ENST00000644239.2:n.1544C>T
ENST00000644794.1:n.4784C>T
ENST00000644881.2:c.13408C>T	ENSP00000495022.2:p.Pro4470Ser
ENST00000645039.2:c.*1259C>T	ENSP00000495220.2:n.*1259C>T
ENST00000645085.1:n.1654C>T
ENST00000645149.2:c.13261C>T	ENSP00000495944.2:p.Pro4421Ser
ENST00000645978.2:n.470C>T
ENST00000647143.1:n.1813C>T
ENST00000647204.2:n.3514C>T
ENST00000647366.1:n.6962C>T
ENST00000679720.1:c.13408C>T	ENSP00000505938.1:p.Pro4470Ser
ENST00000679910.1:c.*4490C>T	ENSP00000506521.1:n.*4490C>T
ENST00000680120.1:c.*167C>T	ENSP00000504863.1:n.*167C>T
ENST00000680178.1:n.1737C>T
ENST00000680200.1:c.*2667C>T	ENSP00000506166.1:n.*2667C>T
ENST00000680313.1:c.*154C>T	ENSP00000506208.1:n.*154C>T
ENST00000680423.1:c.*5139C>T	ENSP00000505483.1:n.*5139C>T
ENST00000680715.1:c.*698C>T	ENSP00000505332.1:n.*698C>T
ENST00000681066.1:c.*1431C>T	ENSP00000506344.1:n.*1431C>T
ENST00000681283.1:c.*2120C>T	ENSP00000505667.1:n.*2120C>T
ENST00000681536.1:c.*6607C>T	ENSP00000505821.1:n.*6607C>T
ENST00000681574.1:c.13408C>T	ENSP00000505523.1:p.Pro4470Ser
ENST00000681822.1:c.13408C>T	ENSP00000505744.1:p.Pro4470Ser
ENST00000684561.1:c.*4867C>T	ENSP00000506816.1:n.*4867C>T