Canonical Allele Identifier: CA346663926
Community Standard Title: NM_022436.3(ABCG5):c.1376A>G (p.Gln459Arg)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43822884T>C , CM000664.2:g.43822884T>C GRCh38
NC_000002.11:g.44050023T>C , CM000664.1:g.44050023T>C GRCh37
NC_000002.10:g.43903527T>C NCBI36
NG_008883.1:g.20936A>G
NG_053008.1:g.53846T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1376A>G (ABCG5) MANE Select NP_071881.1:p.Gln459Arg
ENST00000405322.8:c.1376A>G (ABCG5) MANE Select ENSP00000384513.2:p.Gln459Arg
NM_001348912.1:c.*16-4502T>C (DYNC2LI1) NP_001335841.1:n.*16-4502T>C
NM_001348912.2:c.*16-4502T>C (DYNC2LI1) NP_001335841.1:n.*16-4502T>C
NM_001348913.1:c.*16-4502T>C (DYNC2LI1) NP_001335842.1:n.*16-4502T>C
NM_001348913.2:c.*16-4502T>C (DYNC2LI1) NP_001335842.1:n.*16-4502T>C
NM_022436.2:c.1376A>G (ABCG5) NP_071881.1:p.Gln459Arg
ENST00000260645.5:c.1376A>G (ABCG5) ENSP00000260645.1:p.Gln459Arg
ENST00000405322.5:c.863A>G (ABCG5) ENSP00000384513.1:p.Gln288Arg
ENST00000409962.1:c.*250A>G (ABCG5) ENSP00000386501.1:n.*250A>G
ENST00000486512.5:c.*645A>G (ABCG5) ENSP00000430935.1:n.*645A>G
ENST00000644754.1:n.1760A>G (ABCG5)
XM_005264364.3:c.*16-4502T>C (DYNC2LI1) XP_005264421.1:n.*16-4502T>C
XM_005264365.3:c.*16-4502T>C (DYNC2LI1) XP_005264422.1:n.*16-4502T>C
XM_005264480.2:c.1376A>G (ABCG5) XP_005264537.1:p.Gln459Arg
XM_005264480.4:c.1376A>G (ABCG5) XP_005264537.1:p.Gln459Arg
XM_006712073.2:c.1376A>G (ABCG5) XP_006712136.1:p.Gln459Arg
XM_006712073.3:c.1376A>G (ABCG5) XP_006712136.1:p.Gln459Arg
XM_011533024.1:c.1241A>G (ABCG5) XP_011531326.1:p.Gln414Arg
XM_011533024.2:c.1241A>G (ABCG5) XP_011531326.1:p.Gln414Arg
XM_011533025.1:c.1133A>G (ABCG5) XP_011531327.1:p.Gln378Arg
XM_011533025.3:c.1133A>G (ABCG5) XP_011531327.1:p.Gln378Arg
XM_011533026.1:c.1106A>G (ABCG5) XP_011531328.1:p.Gln369Arg
XM_011533026.2:c.1106A>G (ABCG5) XP_011531328.1:p.Gln369Arg
XM_011533027.1:c.863A>G (ABCG5) XP_011531329.1:p.Gln288Arg
XM_011533027.3:c.863A>G (ABCG5) XP_011531329.1:p.Gln288Arg
XM_011533028.1:c.539A>G (ABCG5) XP_011531330.1:p.Gln180Arg
XM_011533028.2:c.539A>G (ABCG5) XP_011531330.1:p.Gln180Arg