Canonical Allele Identifier: CA1636361
Community Standard Title: NM_022436.3(ABCG5):c.1223G>A (p.Arg408Gln)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43824014C>T , CM000664.2:g.43824014C>T GRCh38
NC_000002.11:g.44051153C>T , CM000664.1:g.44051153C>T GRCh37
NC_000002.10:g.43904657C>T NCBI36
NG_008883.1:g.19806G>A
NG_053008.1:g.54976C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1223G>A (ABCG5) MANE Select NP_071881.1:p.Arg408Gln
ENST00000405322.8:c.1223G>A (ABCG5) MANE Select ENSP00000384513.2:p.Arg408Gln
NM_001348912.1:c.*16-3372C>T (DYNC2LI1) NP_001335841.1:n.*16-3372C>T
NM_001348912.2:c.*16-3372C>T (DYNC2LI1) NP_001335841.1:n.*16-3372C>T
NM_001348913.1:c.*16-3372C>T (DYNC2LI1) NP_001335842.1:n.*16-3372C>T
NM_001348913.2:c.*16-3372C>T (DYNC2LI1) NP_001335842.1:n.*16-3372C>T
NM_022436.2:c.1223G>A (ABCG5) NP_071881.1:p.Arg408Gln
ENST00000260645.5:c.1223G>A (ABCG5) ENSP00000260645.1:p.Arg408Gln
ENST00000405322.5:c.710G>A (ABCG5) ENSP00000384513.1:p.Arg237Gln
ENST00000409962.1:c.*97G>A (ABCG5) ENSP00000386501.1:n.*97G>A
ENST00000486512.5:c.*492G>A (ABCG5) ENSP00000430935.1:n.*492G>A
ENST00000644754.1:n.1607G>A (ABCG5)
XM_005264364.3:c.*16-3372C>T (DYNC2LI1) XP_005264421.1:n.*16-3372C>T
XM_005264365.3:c.*16-3372C>T (DYNC2LI1) XP_005264422.1:n.*16-3372C>T
XM_005264480.2:c.1223G>A (ABCG5) XP_005264537.1:p.Arg408Gln
XM_005264480.4:c.1223G>A (ABCG5) XP_005264537.1:p.Arg408Gln
XM_006712073.2:c.1223G>A (ABCG5) XP_006712136.1:p.Arg408Gln
XM_006712073.3:c.1223G>A (ABCG5) XP_006712136.1:p.Arg408Gln
XM_011533024.1:c.1189+34G>A (ABCG5) XP_011531326.1:n.1189+34G>A
XM_011533024.2:c.1189+34G>A (ABCG5) XP_011531326.1:n.1189+34G>A
XM_011533025.1:c.980G>A (ABCG5) XP_011531327.1:p.Arg327Gln
XM_011533025.3:c.980G>A (ABCG5) XP_011531327.1:p.Arg327Gln
XM_011533026.1:c.953G>A (ABCG5) XP_011531328.1:p.Arg318Gln
XM_011533026.2:c.953G>A (ABCG5) XP_011531328.1:p.Arg318Gln
XM_011533027.1:c.710G>A (ABCG5) XP_011531329.1:p.Arg237Gln
XM_011533027.3:c.710G>A (ABCG5) XP_011531329.1:p.Arg237Gln
XM_011533028.1:c.386G>A (ABCG5) XP_011531330.1:p.Arg129Gln
XM_011533028.2:c.386G>A (ABCG5) XP_011531330.1:p.Arg129Gln