Canonical Allele Identifier: CA1636145

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43813262G>C , CM000664.2:g.43813262G>C	GRCh38
NC_000002.11:g.44040401G>C , CM000664.1:g.44040401G>C	GRCh37
NC_000002.10:g.43893905G>C	NCBI36
NG_008883.1:g.30558C>G
NG_053008.1:g.44224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1810C>G (ABCG5) MANE Select	ENSP00000384513.2:p.Gln604Glu
ENST00000644754.1:n.2194C>G (ABCG5)
ENST00000260645.5:c.1810C>G (ABCG5)	ENSP00000260645.1:p.Gln604Glu
ENST00000405322.5:c.1297C>G (ABCG5)	ENSP00000384513.1:p.Gln433Glu
ENST00000409962.1:c.*684C>G (ABCG5)	ENSP00000386501.1:n.*684C>G
ENST00000486512.5:c.*1079C>G (ABCG5)	ENSP00000430935.1:n.*1079C>G
NM_022436.2:c.1810C>G (ABCG5)	NP_071881.1:p.Gln604Glu
XM_005264364.3:c.*15+2738G>C (DYNC2LI1)	XP_005264421.1:n.*15+2738G>C
XM_005264365.3:c.*15+2738G>C (DYNC2LI1)	XP_005264422.1:n.*15+2738G>C
XM_005264480.2:c.*20C>G (ABCG5)	XP_005264537.1:n.*20C>G
XM_006712073.2:c.1762+1215C>G (ABCG5)	XP_006712136.1:n.1762+1215C>G
XM_011533024.1:c.1675C>G (ABCG5)	XP_011531326.1:p.Gln559Glu
XM_011533025.1:c.1567C>G (ABCG5)	XP_011531327.1:p.Gln523Glu
XM_011533026.1:c.1540C>G (ABCG5)	XP_011531328.1:p.Gln514Glu
XM_011533027.1:c.1297C>G (ABCG5)	XP_011531329.1:p.Gln433Glu
XM_011533028.1:c.973C>G (ABCG5)	XP_011531330.1:p.Gln325Glu
NM_001348912.1:c.*15+2738G>C (DYNC2LI1)	NP_001335841.1:n.*15+2738G>C
NM_001348913.1:c.*15+2738G>C (DYNC2LI1)	NP_001335842.1:n.*15+2738G>C
XM_005264480.4:c.*20C>G (ABCG5)	XP_005264537.1:n.*20C>G
XM_006712073.3:c.1762+1215C>G (ABCG5)	XP_006712136.1:n.1762+1215C>G
XM_011533024.2:c.1675C>G (ABCG5)	XP_011531326.1:p.Gln559Glu
XM_011533025.3:c.1567C>G (ABCG5)	XP_011531327.1:p.Gln523Glu
XM_011533026.2:c.1540C>G (ABCG5)	XP_011531328.1:p.Gln514Glu
XM_011533027.3:c.1297C>G (ABCG5)	XP_011531329.1:p.Gln433Glu
XM_011533028.2:c.973C>G (ABCG5)	XP_011531330.1:p.Gln325Glu
NM_022436.3:c.1810C>G (ABCG5) MANE Select	NP_071881.1:p.Gln604Glu
NM_001348912.2:c.*15+2738G>C (DYNC2LI1)	NP_001335841.1:n.*15+2738G>C
NM_001348913.2:c.*15+2738G>C (DYNC2LI1)	NP_001335842.1:n.*15+2738G>C