Canonical Allele Identifier: CA346657096

Gene: DYNC2LI1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_016008.4:c.349C>A MANE Select	NP_057092.2:p.Leu117Ile
ENST00000260605.12:c.349C>A MANE Select	ENSP00000260605.8:p.Leu117Ile
NM_001193464.1:c.349C>A	NP_001180393.1:p.Leu117Ile
NM_001193464.2:c.349C>A	NP_001180393.1:p.Leu117Ile
NM_001348912.1:c.349C>A	NP_001335841.1:p.Leu117Ile
NM_001348912.2:c.349C>A	NP_001335841.1:p.Leu117Ile
NM_001348913.1:c.349C>A	NP_001335842.1:p.Leu117Ile
NM_001348913.2:c.349C>A	NP_001335842.1:p.Leu117Ile
NM_015522.3:c.349C>A	NP_056337.1:p.Leu117Ile
NM_015522.4:c.349C>A	NP_056337.1:p.Leu117Ile
NM_016008.3:c.349C>A	NP_057092.2:p.Leu117Ile
ENST00000378587.3:c.300C>A
ENST00000398823.6:c.*1695C>A	ENSP00000381804.2:n.*1695C>A
ENST00000406852.7:c.349C>A	ENSP00000385738.3:p.Leu117Ile
ENST00000462426.1:c.*201C>A	ENSP00000428082.1:n.*201C>A
ENST00000479242.5:c.*60C>A	ENSP00000430525.1:n.*60C>A
ENST00000489222.6:n.305C>A
ENST00000605786.5:c.349C>A	ENSP00000474032.1:p.Leu117Ile
XM_005264364.3:c.349C>A	XP_005264421.1:p.Leu117Ile
XM_005264365.3:c.349C>A	XP_005264422.1:p.Leu117Ile