Canonical Allele Identifier: CA46435841

Gene: DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43796760C>G , CM000664.2:g.43796760C>G	GRCh38
NC_000002.11:g.44023899C>G , CM000664.1:g.44023899C>G	GRCh37
NC_000002.10:g.43877403C>G	NCBI36
NG_053008.1:g.27722C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016008.4:c.619C>G MANE Select	NP_057092.2:p.Arg207Gly
ENST00000260605.12:c.619C>G MANE Select	ENSP00000260605.8:p.Arg207Gly
NM_001193464.1:c.622C>G	NP_001180393.1:p.Arg208Gly
NM_001193464.2:c.622C>G	NP_001180393.1:p.Arg208Gly
NM_001348912.1:c.619C>G	NP_001335841.1:p.Arg207Gly
NM_001348912.2:c.619C>G	NP_001335841.1:p.Arg207Gly
NM_001348913.1:c.622C>G	NP_001335842.1:p.Arg208Gly
NM_001348913.2:c.622C>G	NP_001335842.1:p.Arg208Gly
NM_016008.3:c.619C>G	NP_057092.2:p.Arg207Gly
ENST00000378587.3:c.570C>G
ENST00000489222.6:n.575C>G
ENST00000605786.5:c.622C>G	ENSP00000474032.1:p.Arg208Gly
XM_005264364.3:c.622C>G	XP_005264421.1:p.Arg208Gly
XM_005264365.3:c.619C>G	XP_005264422.1:p.Arg207Gly