Canonical Allele Identifier: CA2493933448

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824015G= , CM000664.2:g.43824015G=	GRCh38
NC_000002.11:g.44051154G= , CM000664.1:g.44051154G=	GRCh37
NC_000002.10:g.43904658G=	NCBI36
NG_008883.1:g.19805C=
NG_053008.1:g.54977G=

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.1222C= (ABCG5) MANE Select	NP_071881.1:p.Arg408=
ENST00000405322.8:c.1222C= (ABCG5) MANE Select	ENSP00000384513.2:p.Arg408=
NM_001348912.1:c.*16-3371G= (DYNC2LI1)	NP_001335841.1:n.*16-3371G=
NM_001348912.2:c.*16-3371G= (DYNC2LI1)	NP_001335841.1:n.*16-3371G=
NM_001348913.1:c.*16-3371G= (DYNC2LI1)	NP_001335842.1:n.*16-3371G=
NM_001348913.2:c.*16-3371G= (DYNC2LI1)	NP_001335842.1:n.*16-3371G=
NM_022436.2:c.1222C= (ABCG5)	NP_071881.1:p.Arg408=
ENST00000260645.5:c.1222C= (ABCG5)	ENSP00000260645.1:p.Arg408=
ENST00000405322.5:c.709C= (ABCG5)	ENSP00000384513.1:p.Arg237=
ENST00000409962.1:c.*96C= (ABCG5)	ENSP00000386501.1:n.*96C=
ENST00000486512.5:c.*491C= (ABCG5)	ENSP00000430935.1:n.*491C=
ENST00000644754.1:n.1606C= (ABCG5)
XM_005264364.3:c.*16-3371G= (DYNC2LI1)	XP_005264421.1:n.*16-3371G=
XM_005264365.3:c.*16-3371G= (DYNC2LI1)	XP_005264422.1:n.*16-3371G=
XM_005264480.2:c.1222C= (ABCG5)	XP_005264537.1:p.Arg408=
XM_005264480.4:c.1222C= (ABCG5)	XP_005264537.1:p.Arg408=
XM_006712073.2:c.1222C= (ABCG5)	XP_006712136.1:p.Arg408=
XM_006712073.3:c.1222C= (ABCG5)	XP_006712136.1:p.Arg408=
XM_011533024.1:c.1189+33C= (ABCG5)	XP_011531326.1:n.1189+33C=
XM_011533024.2:c.1189+33C= (ABCG5)	XP_011531326.1:n.1189+33C=
XM_011533025.1:c.979C= (ABCG5)	XP_011531327.1:p.Arg327=
XM_011533025.3:c.979C= (ABCG5)	XP_011531327.1:p.Arg327=
XM_011533026.1:c.952C= (ABCG5)	XP_011531328.1:p.Arg318=
XM_011533026.2:c.952C= (ABCG5)	XP_011531328.1:p.Arg318=
XM_011533027.1:c.709C= (ABCG5)	XP_011531329.1:p.Arg237=
XM_011533027.3:c.709C= (ABCG5)	XP_011531329.1:p.Arg237=
XM_011533028.1:c.385C= (ABCG5)	XP_011531330.1:p.Arg129=
XM_011533028.2:c.385C= (ABCG5)	XP_011531330.1:p.Arg129=