Canonical Allele Identifier: CA1636146
Community Standard Title: NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43813266G>A , CM000664.2:g.43813266G>A GRCh38
NC_000002.11:g.44040405G>A , CM000664.1:g.44040405G>A GRCh37
NC_000002.10:g.43893909G>A NCBI36
NG_008883.1:g.30554C>T
NG_053008.1:g.44228G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1806C>T (ABCG5) MANE Select NP_071881.1:p.Phe602=
ENST00000405322.8:c.1806C>T (ABCG5) MANE Select ENSP00000384513.2:p.Phe602=
NM_001348912.1:c.*15+2742G>A (DYNC2LI1) NP_001335841.1:n.*15+2742G>A
NM_001348912.2:c.*15+2742G>A (DYNC2LI1) NP_001335841.1:n.*15+2742G>A
NM_001348913.1:c.*15+2742G>A (DYNC2LI1) NP_001335842.1:n.*15+2742G>A
NM_001348913.2:c.*15+2742G>A (DYNC2LI1) NP_001335842.1:n.*15+2742G>A
NM_022436.2:c.1806C>T (ABCG5) NP_071881.1:p.Phe602=
ENST00000260645.5:c.1806C>T (ABCG5) ENSP00000260645.1:p.Phe602=
ENST00000405322.5:c.1293C>T (ABCG5) ENSP00000384513.1:p.Phe431=
ENST00000409962.1:c.*680C>T (ABCG5) ENSP00000386501.1:n.*680C>T
ENST00000486512.5:c.*1075C>T (ABCG5) ENSP00000430935.1:n.*1075C>T
ENST00000644754.1:n.2190C>T (ABCG5)
XM_005264364.3:c.*15+2742G>A (DYNC2LI1) XP_005264421.1:n.*15+2742G>A
XM_005264365.3:c.*15+2742G>A (DYNC2LI1) XP_005264422.1:n.*15+2742G>A
XM_005264480.2:c.*16C>T (ABCG5) XP_005264537.1:n.*16C>T
XM_005264480.4:c.*16C>T (ABCG5) XP_005264537.1:n.*16C>T
XM_006712073.2:c.1762+1211C>T (ABCG5) XP_006712136.1:n.1762+1211C>T
XM_006712073.3:c.1762+1211C>T (ABCG5) XP_006712136.1:n.1762+1211C>T
XM_011533024.1:c.1671C>T (ABCG5) XP_011531326.1:p.Phe557=
XM_011533024.2:c.1671C>T (ABCG5) XP_011531326.1:p.Phe557=
XM_011533025.1:c.1563C>T (ABCG5) XP_011531327.1:p.Phe521=
XM_011533025.3:c.1563C>T (ABCG5) XP_011531327.1:p.Phe521=
XM_011533026.1:c.1536C>T (ABCG5) XP_011531328.1:p.Phe512=
XM_011533026.2:c.1536C>T (ABCG5) XP_011531328.1:p.Phe512=
XM_011533027.1:c.1293C>T (ABCG5) XP_011531329.1:p.Phe431=
XM_011533027.3:c.1293C>T (ABCG5) XP_011531329.1:p.Phe431=
XM_011533028.1:c.969C>T (ABCG5) XP_011531330.1:p.Phe323=
XM_011533028.2:c.969C>T (ABCG5) XP_011531330.1:p.Phe323=