Canonical Allele Identifier: CA346663932
Community Standard Title: NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43822886G>C , CM000664.2:g.43822886G>C GRCh38
NC_000002.11:g.44050025G>C , CM000664.1:g.44050025G>C GRCh37
NC_000002.10:g.43903529G>C NCBI36
NG_008883.1:g.20934C>G
NG_053008.1:g.53848G>C

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1374C>G (ABCG5) MANE Select NP_071881.1:p.Tyr458Ter
ENST00000405322.8:c.1374C>G (ABCG5) MANE Select ENSP00000384513.2:p.Tyr458Ter
NM_001348912.1:c.*16-4500G>C (DYNC2LI1) NP_001335841.1:n.*16-4500G>C
NM_001348912.2:c.*16-4500G>C (DYNC2LI1) NP_001335841.1:n.*16-4500G>C
NM_001348913.1:c.*16-4500G>C (DYNC2LI1) NP_001335842.1:n.*16-4500G>C
NM_001348913.2:c.*16-4500G>C (DYNC2LI1) NP_001335842.1:n.*16-4500G>C
NM_022436.2:c.1374C>G (ABCG5) NP_071881.1:p.Tyr458Ter
ENST00000260645.5:c.1374C>G (ABCG5) ENSP00000260645.1:p.Tyr458Ter
ENST00000405322.5:c.861C>G (ABCG5) ENSP00000384513.1:p.Tyr287Ter
ENST00000409962.1:c.*248C>G (ABCG5) ENSP00000386501.1:n.*248C>G
ENST00000486512.5:c.*643C>G (ABCG5) ENSP00000430935.1:n.*643C>G
ENST00000644754.1:n.1758C>G (ABCG5)
XM_005264364.3:c.*16-4500G>C (DYNC2LI1) XP_005264421.1:n.*16-4500G>C
XM_005264365.3:c.*16-4500G>C (DYNC2LI1) XP_005264422.1:n.*16-4500G>C
XM_005264480.2:c.1374C>G (ABCG5) XP_005264537.1:p.Tyr458Ter
XM_005264480.4:c.1374C>G (ABCG5) XP_005264537.1:p.Tyr458Ter
XM_006712073.2:c.1374C>G (ABCG5) XP_006712136.1:p.Tyr458Ter
XM_006712073.3:c.1374C>G (ABCG5) XP_006712136.1:p.Tyr458Ter
XM_011533024.1:c.1239C>G (ABCG5) XP_011531326.1:p.Tyr413Ter
XM_011533024.2:c.1239C>G (ABCG5) XP_011531326.1:p.Tyr413Ter
XM_011533025.1:c.1131C>G (ABCG5) XP_011531327.1:p.Tyr377Ter
XM_011533025.3:c.1131C>G (ABCG5) XP_011531327.1:p.Tyr377Ter
XM_011533026.1:c.1104C>G (ABCG5) XP_011531328.1:p.Tyr368Ter
XM_011533026.2:c.1104C>G (ABCG5) XP_011531328.1:p.Tyr368Ter
XM_011533027.1:c.861C>G (ABCG5) XP_011531329.1:p.Tyr287Ter
XM_011533027.3:c.861C>G (ABCG5) XP_011531329.1:p.Tyr287Ter
XM_011533028.1:c.537C>G (ABCG5) XP_011531330.1:p.Tyr179Ter
XM_011533028.2:c.537C>G (ABCG5) XP_011531330.1:p.Tyr179Ter