Canonical Allele Identifier: CA240144
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43813208T>C , CM000664.2:g.43813208T>C GRCh38
NC_000002.11:g.44040347T>C , CM000664.1:g.44040347T>C GRCh37
NC_000002.10:g.43893851T>C NCBI36
NG_008883.1:g.30612A>G
NG_053008.1:g.44170T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1864A>G (ABCG5) MANE Select NP_071881.1:p.Met622Val
ENST00000405322.8:c.1864A>G (ABCG5) MANE Select ENSP00000384513.2:p.Met622Val
NM_001348912.1:c.*15+2684T>C (DYNC2LI1) NP_001335841.1:n.*15+2684T>C
NM_001348912.2:c.*15+2684T>C (DYNC2LI1) NP_001335841.1:n.*15+2684T>C
NM_001348913.1:c.*15+2684T>C (DYNC2LI1) NP_001335842.1:n.*15+2684T>C
NM_001348913.2:c.*15+2684T>C (DYNC2LI1) NP_001335842.1:n.*15+2684T>C
NM_022436.2:c.1864A>G (ABCG5) NP_071881.1:p.Met622Val
ENST00000260645.5:c.1864A>G (ABCG5) ENSP00000260645.1:p.Met622Val
ENST00000405322.5:c.1351A>G (ABCG5) ENSP00000384513.1:p.Met451Val
ENST00000409962.1:c.*738A>G (ABCG5) ENSP00000386501.1:n.*738A>G
ENST00000486512.5:c.*1133A>G (ABCG5) ENSP00000430935.1:n.*1133A>G
ENST00000644754.1:n.2248A>G (ABCG5)
XM_005264364.3:c.*15+2684T>C (DYNC2LI1) XP_005264421.1:n.*15+2684T>C
XM_005264365.3:c.*15+2684T>C (DYNC2LI1) XP_005264422.1:n.*15+2684T>C
XM_005264480.2:c.*74A>G (ABCG5) XP_005264537.1:n.*74A>G
XM_005264480.4:c.*74A>G (ABCG5) XP_005264537.1:n.*74A>G
XM_006712073.2:c.1762+1269A>G (ABCG5) XP_006712136.1:n.1762+1269A>G
XM_006712073.3:c.1762+1269A>G (ABCG5) XP_006712136.1:n.1762+1269A>G
XM_011533024.1:c.1729A>G (ABCG5) XP_011531326.1:p.Met577Val
XM_011533024.2:c.1729A>G (ABCG5) XP_011531326.1:p.Met577Val
XM_011533025.1:c.1621A>G (ABCG5) XP_011531327.1:p.Met541Val
XM_011533025.3:c.1621A>G (ABCG5) XP_011531327.1:p.Met541Val
XM_011533026.1:c.1594A>G (ABCG5) XP_011531328.1:p.Met532Val
XM_011533026.2:c.1594A>G (ABCG5) XP_011531328.1:p.Met532Val
XM_011533027.1:c.1351A>G (ABCG5) XP_011531329.1:p.Met451Val
XM_011533027.3:c.1351A>G (ABCG5) XP_011531329.1:p.Met451Val
XM_011533028.1:c.1027A>G (ABCG5) XP_011531330.1:p.Met343Val
XM_011533028.2:c.1027A>G (ABCG5) XP_011531330.1:p.Met343Val