Canonical Allele Identifier: CA346661246

Gene: DYNC2LI1 ABCG5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43809711G>C , CM000664.2:g.43809711G>C	GRCh38
NC_000002.11:g.44036850G>C , CM000664.1:g.44036850G>C	GRCh37
NC_000002.10:g.43890354G>C	NCBI36
NG_053008.1:g.40673G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016008.4:c.1000G>C (DYNC2LI1) MANE Select	NP_057092.2:p.Glu334Gln
ENST00000260605.12:c.1000G>C (DYNC2LI1) MANE Select	ENSP00000260605.8:p.Glu334Gln
NM_001193464.1:c.1003G>C (DYNC2LI1)	NP_001180393.1:p.Glu335Gln
NM_001193464.2:c.1003G>C (DYNC2LI1)	NP_001180393.1:p.Glu335Gln
NM_001348912.1:c.994-670G>C (DYNC2LI1)	NP_001335841.1:n.994-670G>C
NM_001348912.2:c.994-670G>C (DYNC2LI1)	NP_001335841.1:n.994-670G>C
NM_001348913.1:c.997-670G>C (DYNC2LI1)	NP_001335842.1:n.997-670G>C
NM_001348913.2:c.997-670G>C (DYNC2LI1)	NP_001335842.1:n.997-670G>C
NM_016008.3:c.1000G>C (DYNC2LI1)	NP_057092.2:p.Glu334Gln
ENST00000605786.5:c.1003G>C (DYNC2LI1)	ENSP00000474032.1:p.Glu335Gln
XM_005264364.3:c.997-670G>C (DYNC2LI1)	XP_005264421.1:n.997-670G>C
XM_005264365.3:c.994-670G>C (DYNC2LI1)	XP_005264422.1:n.994-670G>C
XM_006712073.2:c.1763-3300C>G (ABCG5)	XP_006712136.1:n.1763-3300C>G
XM_006712073.3:c.1763-3300C>G (ABCG5)	XP_006712136.1:n.1763-3300C>G