Canonical Allele Identifier: CA1636129

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43813186G>C , CM000664.2:g.43813186G>C	GRCh38
NC_000002.11:g.44040325G>C , CM000664.1:g.44040325G>C	GRCh37
NC_000002.10:g.43893829G>C	NCBI36
NG_008883.1:g.30634C>G
NG_053008.1:g.44148G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.1886C>G (ABCG5) MANE Select	NP_071881.1:p.Ser629Ter
ENST00000405322.8:c.1886C>G (ABCG5) MANE Select	ENSP00000384513.2:p.Ser629Ter
NM_001348912.1:c.*15+2662G>C (DYNC2LI1)	NP_001335841.1:n.*15+2662G>C
NM_001348912.2:c.*15+2662G>C (DYNC2LI1)	NP_001335841.1:n.*15+2662G>C
NM_001348913.1:c.*15+2662G>C (DYNC2LI1)	NP_001335842.1:n.*15+2662G>C
NM_001348913.2:c.*15+2662G>C (DYNC2LI1)	NP_001335842.1:n.*15+2662G>C
NM_022436.2:c.1886C>G (ABCG5)	NP_071881.1:p.Ser629Ter
ENST00000260645.5:c.1886C>G (ABCG5)	ENSP00000260645.1:p.Ser629Ter
ENST00000405322.5:c.1373C>G (ABCG5)	ENSP00000384513.1:p.Ser458Ter
ENST00000409962.1:c.*760C>G (ABCG5)	ENSP00000386501.1:n.*760C>G
ENST00000486512.5:c.*1155C>G (ABCG5)	ENSP00000430935.1:n.*1155C>G
ENST00000644754.1:n.2270C>G (ABCG5)
XM_005264364.3:c.*15+2662G>C (DYNC2LI1)	XP_005264421.1:n.*15+2662G>C
XM_005264365.3:c.*15+2662G>C (DYNC2LI1)	XP_005264422.1:n.*15+2662G>C
XM_006712073.2:c.1762+1291C>G (ABCG5)	XP_006712136.1:n.1762+1291C>G
XM_006712073.3:c.1762+1291C>G (ABCG5)	XP_006712136.1:n.1762+1291C>G
XM_011533024.1:c.1751C>G (ABCG5)	XP_011531326.1:p.Ser584Ter
XM_011533024.2:c.1751C>G (ABCG5)	XP_011531326.1:p.Ser584Ter
XM_011533025.1:c.1643C>G (ABCG5)	XP_011531327.1:p.Ser548Ter
XM_011533025.3:c.1643C>G (ABCG5)	XP_011531327.1:p.Ser548Ter
XM_011533026.1:c.1616C>G (ABCG5)	XP_011531328.1:p.Ser539Ter
XM_011533026.2:c.1616C>G (ABCG5)	XP_011531328.1:p.Ser539Ter
XM_011533027.1:c.1373C>G (ABCG5)	XP_011531329.1:p.Ser458Ter
XM_011533027.3:c.1373C>G (ABCG5)	XP_011531329.1:p.Ser458Ter
XM_011533028.1:c.1049C>G (ABCG5)	XP_011531330.1:p.Ser350Ter
XM_011533028.2:c.1049C>G (ABCG5)	XP_011531330.1:p.Ser350Ter