Canonical Allele Identifier: CA425757618
Community Standard Title: NM_022436.3(ABCG5):c.1770A>C (p.Ser590=)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43813302T>G , CM000664.2:g.43813302T>G GRCh38
NC_000002.11:g.44040441T>G , CM000664.1:g.44040441T>G GRCh37
NC_000002.10:g.43893945T>G NCBI36
NG_008883.1:g.30518A>C
NG_053008.1:g.44264T>G

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1770A>C (ABCG5) MANE Select NP_071881.1:p.Ser590=
ENST00000405322.8:c.1770A>C (ABCG5) MANE Select ENSP00000384513.2:p.Ser590=
NM_001348912.1:c.*15+2778T>G (DYNC2LI1) NP_001335841.1:n.*15+2778T>G
NM_001348912.2:c.*15+2778T>G (DYNC2LI1) NP_001335841.1:n.*15+2778T>G
NM_001348913.1:c.*15+2778T>G (DYNC2LI1) NP_001335842.1:n.*15+2778T>G
NM_001348913.2:c.*15+2778T>G (DYNC2LI1) NP_001335842.1:n.*15+2778T>G
NM_022436.2:c.1770A>C (ABCG5) NP_071881.1:p.Ser590=
ENST00000260645.5:c.1770A>C (ABCG5) ENSP00000260645.1:p.Ser590=
ENST00000405322.5:c.1257A>C (ABCG5) ENSP00000384513.1:p.Ser419=
ENST00000409962.1:c.*644A>C (ABCG5) ENSP00000386501.1:n.*644A>C
ENST00000486512.5:c.*1039A>C (ABCG5) ENSP00000430935.1:n.*1039A>C
ENST00000644754.1:n.2154A>C (ABCG5)
XM_005264364.3:c.*15+2778T>G (DYNC2LI1) XP_005264421.1:n.*15+2778T>G
XM_005264365.3:c.*15+2778T>G (DYNC2LI1) XP_005264422.1:n.*15+2778T>G
XM_005264480.2:c.1657A>C (ABCG5) XP_005264537.1:p.Lys553Gln
XM_005264480.4:c.1657A>C (ABCG5) XP_005264537.1:p.Lys553Gln
XM_006712073.2:c.1762+1175A>C (ABCG5) XP_006712136.1:n.1762+1175A>C
XM_006712073.3:c.1762+1175A>C (ABCG5) XP_006712136.1:n.1762+1175A>C
XM_011533024.1:c.1635A>C (ABCG5) XP_011531326.1:p.Ser545=
XM_011533024.2:c.1635A>C (ABCG5) XP_011531326.1:p.Ser545=
XM_011533025.1:c.1527A>C (ABCG5) XP_011531327.1:p.Ser509=
XM_011533025.3:c.1527A>C (ABCG5) XP_011531327.1:p.Ser509=
XM_011533026.1:c.1500A>C (ABCG5) XP_011531328.1:p.Ser500=
XM_011533026.2:c.1500A>C (ABCG5) XP_011531328.1:p.Ser500=
XM_011533027.1:c.1257A>C (ABCG5) XP_011531329.1:p.Ser419=
XM_011533027.3:c.1257A>C (ABCG5) XP_011531329.1:p.Ser419=
XM_011533028.1:c.933A>C (ABCG5) XP_011531330.1:p.Ser311=
XM_011533028.2:c.933A>C (ABCG5) XP_011531330.1:p.Ser311=