Canonical Allele Identifier: CA1636556

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43826459C>T , CM000664.2:g.43826459C>T	GRCh38
NC_000002.11:g.44053598C>T , CM000664.1:g.44053598C>T	GRCh37
NC_000002.10:g.43907102C>T	NCBI36
NG_008883.1:g.17361G>A
NG_053008.1:g.57421C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.697G>A (ABCG5) MANE Select	NP_071881.1:p.Val233Ile
ENST00000405322.8:c.697G>A (ABCG5) MANE Select	ENSP00000384513.2:p.Val233Ile
NM_001348912.1:c.*16-927C>T (DYNC2LI1)	NP_001335841.1:n.*16-927C>T
NM_001348912.2:c.*16-927C>T (DYNC2LI1)	NP_001335841.1:n.*16-927C>T
NM_001348913.1:c.*16-927C>T (DYNC2LI1)	NP_001335842.1:n.*16-927C>T
NM_001348913.2:c.*16-927C>T (DYNC2LI1)	NP_001335842.1:n.*16-927C>T
NM_022436.2:c.697G>A (ABCG5)	NP_071881.1:p.Val233Ile
ENST00000260645.5:c.697G>A (ABCG5)	ENSP00000260645.1:p.Val233Ile
ENST00000405322.5:c.391+1524G>A (ABCG5)	ENSP00000384513.1:n.391+1524G>A
ENST00000409962.1:c.391+1524G>A (ABCG5)	ENSP00000386501.1:n.391+1524G>A
ENST00000486512.5:c.*387+1524G>A (ABCG5)	ENSP00000430935.1:n.*387+1524G>A
ENST00000644754.1:n.1288+1524G>A (ABCG5)
XM_005264364.3:c.*16-927C>T (DYNC2LI1)	XP_005264421.1:n.*16-927C>T
XM_005264365.3:c.*16-927C>T (DYNC2LI1)	XP_005264422.1:n.*16-927C>T
XM_005264480.2:c.697G>A (ABCG5)	XP_005264537.1:p.Val233Ile
XM_005264480.4:c.697G>A (ABCG5)	XP_005264537.1:p.Val233Ile
XM_006712073.2:c.697G>A (ABCG5)	XP_006712136.1:p.Val233Ile
XM_006712073.3:c.697G>A (ABCG5)	XP_006712136.1:p.Val233Ile
XM_006712074.2:c.697G>A (ABCG5)	XP_006712137.1:p.Val233Ile
XM_006712074.3:c.697G>A (ABCG5)	XP_006712137.1:p.Val233Ile
XM_011533024.1:c.697G>A (ABCG5)	XP_011531326.1:p.Val233Ile
XM_011533024.2:c.697G>A (ABCG5)	XP_011531326.1:p.Val233Ile
XM_011533025.1:c.454G>A (ABCG5)	XP_011531327.1:p.Val152Ile
XM_011533025.3:c.454G>A (ABCG5)	XP_011531327.1:p.Val152Ile
XM_011533026.1:c.634+1524G>A (ABCG5)	XP_011531328.1:n.634+1524G>A
XM_011533026.2:c.634+1524G>A (ABCG5)	XP_011531328.1:n.634+1524G>A
XM_011533027.1:c.184G>A (ABCG5)	XP_011531329.1:p.Val62Ile
XM_011533027.3:c.184G>A (ABCG5)	XP_011531329.1:p.Val62Ile
XM_011533028.1:c.-63-1441G>A (ABCG5)	XP_011531330.1:n.-63-1441G>A
XM_011533028.2:c.-63-1441G>A (ABCG5)	XP_011531330.1:n.-63-1441G>A