Canonical Allele Identifier: CA2493918659
Community Standard Title: NM_016008.4(DYNC2LI1):c.349C= (p.Leu117=)
Gene: DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43794485C= , CM000664.2:g.43794485C= GRCh38
NC_000002.11:g.44021624C= , CM000664.1:g.44021624C= GRCh37
NC_000002.10:g.43875128C= NCBI36
NG_053008.1:g.25447C=

Transcript Alleles

HGVS Amino-acid Change
NM_016008.4:c.349C= MANE Select NP_057092.2:p.Leu117=
ENST00000260605.12:c.349C= MANE Select ENSP00000260605.8:p.Leu117=
NM_001193464.1:c.349C= NP_001180393.1:p.Leu117=
NM_001193464.2:c.349C= NP_001180393.1:p.Leu117=
NM_001348912.1:c.349C= NP_001335841.1:p.Leu117=
NM_001348912.2:c.349C= NP_001335841.1:p.Leu117=
NM_001348913.1:c.349C= NP_001335842.1:p.Leu117=
NM_001348913.2:c.349C= NP_001335842.1:p.Leu117=
NM_015522.3:c.349C= NP_056337.1:p.Leu117=
NM_015522.4:c.349C= NP_056337.1:p.Leu117=
NM_016008.3:c.349C= NP_057092.2:p.Leu117=
ENST00000378587.3:c.300C=
ENST00000398823.6:c.*1695C= ENSP00000381804.2:n.*1695C=
ENST00000406852.7:c.349C= ENSP00000385738.3:p.Leu117=
ENST00000462426.1:c.*201C= ENSP00000428082.1:n.*201C=
ENST00000479242.5:c.*60C= ENSP00000430525.1:n.*60C=
ENST00000489222.6:n.305C=
ENST00000605786.5:c.349C= ENSP00000474032.1:p.Leu117=
XM_005264364.3:c.349C= XP_005264421.1:p.Leu117=
XM_005264365.3:c.349C= XP_005264422.1:p.Leu117=