Canonical Allele Identifier: CA16042831
Gene: DYNC1H1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372934
dbSNP Id: rs1057518083

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.101986552C>T , CM000676.2:g.101986552C>T GRCh38
NC_000014.8:g.102452889C>T , CM000676.1:g.102452889C>T GRCh37
NC_000014.7:g.101522642C>T NCBI36
NG_008777.1:g.27025C>T

Transcript Alleles

HGVS Amino-acid change
NM_001376.4:c.2327C>T VV NP_001367.2:p.Pro776Leu
NM_001376.5:c.2327C>T VV MANE Preferred NP_001367.2:p.Pro776Leu
ENST00000360184.8:c.2327C>T ENSP00000348965.4:p.Pro776Leu