Canonical Allele Identifier: CA7354037
Community Standard Title: NM_001376.5(DYNC1H1):c.12797A>G (p.Asn4266Ser)
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102044386A>G , CM000676.2:g.102044386A>G GRCh38
NC_000014.8:g.102510723A>G , CM000676.1:g.102510723A>G GRCh37
NC_000014.7:g.101580476A>G NCBI36
NG_008777.1:g.84859A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.12797A>G MANE Select NP_001367.2:p.Asn4266Ser
ENST00000360184.10:c.12797A>G MANE Select ENSP00000348965.4:p.Asn4266Ser
NM_001376.4:c.12797A>G NP_001367.2:p.Asn4266Ser
ENST00000360184.8:c.12797A>G ENSP00000348965.4:p.Asn4266Ser
ENST00000553701.1:n.346+6059T>C
ENST00000557242.1:n.329-7617T>C
ENST00000557551.1:n.18T>C
ENST00000642716.1:n.834A>G
ENST00000643437.1:n.2751A>G
ENST00000643591.1:n.590A>G
ENST00000643829.1:n.2753A>G
ENST00000644239.2:n.933A>G
ENST00000644794.1:n.2916A>G
ENST00000644881.2:c.12797A>G ENSP00000495022.2:p.Asn4266Ser
ENST00000645039.2:c.*648A>G ENSP00000495220.2:n.*648A>G
ENST00000645085.1:n.1043A>G
ENST00000645149.2:c.12650A>G ENSP00000495944.2:p.Asn4217Ser
ENST00000646418.1:n.1254A>G
ENST00000647204.2:n.2133A>G
ENST00000647366.1:n.6351A>G
ENST00000679486.1:c.*785A>G ENSP00000506688.1:n.*785A>G
ENST00000679720.1:c.12797A>G ENSP00000505938.1:p.Asn4266Ser
ENST00000679910.1:c.*3879A>G ENSP00000506521.1:n.*3879A>G
ENST00000680120.1:c.12797A>G ENSP00000504863.1:p.Asn4266Ser
ENST00000680200.1:c.*2056A>G ENSP00000506166.1:n.*2056A>G
ENST00000680313.1:c.12797A>G ENSP00000506208.1:p.Asn4266Ser
ENST00000680423.1:c.*4528A>G ENSP00000505483.1:n.*4528A>G
ENST00000680715.1:c.*87A>G ENSP00000505332.1:n.*87A>G
ENST00000681010.1:c.*480A>G ENSP00000505201.1:n.*480A>G
ENST00000681066.1:c.*820A>G ENSP00000506344.1:n.*820A>G
ENST00000681283.1:c.*1509A>G ENSP00000505667.1:n.*1509A>G
ENST00000681536.1:c.*5996A>G ENSP00000505821.1:n.*5996A>G
ENST00000681574.1:c.12797A>G ENSP00000505523.1:p.Asn4266Ser
ENST00000681822.1:c.12797A>G ENSP00000505744.1:p.Asn4266Ser
ENST00000684561.1:c.*4256A>G ENSP00000506816.1:n.*4256A>G