Canonical Allele Identifier: CA1635938

Gene: DYNC2LI1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_016008.4:c.619C>T MANE Select	NP_057092.2:p.Arg207Ter
ENST00000260605.12:c.619C>T MANE Select	ENSP00000260605.8:p.Arg207Ter
NM_001193464.1:c.622C>T	NP_001180393.1:p.Arg208Ter
NM_001193464.2:c.622C>T	NP_001180393.1:p.Arg208Ter
NM_001348912.1:c.619C>T	NP_001335841.1:p.Arg207Ter
NM_001348912.2:c.619C>T	NP_001335841.1:p.Arg207Ter
NM_001348913.1:c.622C>T	NP_001335842.1:p.Arg208Ter
NM_001348913.2:c.622C>T	NP_001335842.1:p.Arg208Ter
NM_016008.3:c.619C>T	NP_057092.2:p.Arg207Ter
ENST00000378587.3:c.570C>T
ENST00000489222.6:n.575C>T
ENST00000605786.5:c.622C>T	ENSP00000474032.1:p.Arg208Ter
XM_005264364.3:c.622C>T	XP_005264421.1:p.Arg208Ter
XM_005264365.3:c.619C>T	XP_005264422.1:p.Arg207Ter