Canonical Allele Identifier: CA1636276
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290857
dbSNP Id: rs886044572
gnomAD v2: 2-44049953-G-A
gnomAD v3: 2-43822814-G-A
gnomAD v4: 2-43822814-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43822814G>A , CM000664.2:g.43822814G>A GRCh38
NC_000002.11:g.44049953G>A , CM000664.1:g.44049953G>A GRCh37
NC_000002.10:g.43903457G>A NCBI36
NG_008883.1:g.21006C>T
NG_053008.1:g.53776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405322.8:c.1446C>T (ABCG5) MANE Select ENSP00000384513.2:p.Phe482=
ENST00000644754.1:n.1830C>T (ABCG5)
ENST00000260645.5:c.1446C>T (ABCG5) ENSP00000260645.1:p.Phe482=
ENST00000405322.5:c.933C>T (ABCG5) ENSP00000384513.1:p.Phe311=
ENST00000409962.1:c.*320C>T (ABCG5) ENSP00000386501.1:n.*320C>T
ENST00000486512.5:c.*715C>T (ABCG5) ENSP00000430935.1:n.*715C>T
NM_022436.2:c.1446C>T (ABCG5) NP_071881.1:p.Phe482=
XM_005264364.3:c.*16-4572G>A (DYNC2LI1) XP_005264421.1:n.*16-4572G>A
XM_005264365.3:c.*16-4572G>A (DYNC2LI1) XP_005264422.1:n.*16-4572G>A
XM_005264480.2:c.1446C>T (ABCG5) XP_005264537.1:p.Phe482=
XM_006712073.2:c.1446C>T (ABCG5) XP_006712136.1:p.Phe482=
XM_011533024.1:c.1311C>T (ABCG5) XP_011531326.1:p.Phe437=
XM_011533025.1:c.1203C>T (ABCG5) XP_011531327.1:p.Phe401=
XM_011533026.1:c.1176C>T (ABCG5) XP_011531328.1:p.Phe392=
XM_011533027.1:c.933C>T (ABCG5) XP_011531329.1:p.Phe311=
XM_011533028.1:c.609C>T (ABCG5) XP_011531330.1:p.Phe203=
NM_001348912.1:c.*16-4572G>A (DYNC2LI1) NP_001335841.1:n.*16-4572G>A
NM_001348913.1:c.*16-4572G>A (DYNC2LI1) NP_001335842.1:n.*16-4572G>A
XM_005264480.4:c.1446C>T (ABCG5) XP_005264537.1:p.Phe482=
XM_006712073.3:c.1446C>T (ABCG5) XP_006712136.1:p.Phe482=
XM_011533024.2:c.1311C>T (ABCG5) XP_011531326.1:p.Phe437=
XM_011533025.3:c.1203C>T (ABCG5) XP_011531327.1:p.Phe401=
XM_011533026.2:c.1176C>T (ABCG5) XP_011531328.1:p.Phe392=
XM_011533027.3:c.933C>T (ABCG5) XP_011531329.1:p.Phe311=
XM_011533028.2:c.609C>T (ABCG5) XP_011531330.1:p.Phe203=
NM_022436.3:c.1446C>T (ABCG5) MANE Select NP_071881.1:p.Phe482=
NM_001348912.2:c.*16-4572G>A (DYNC2LI1) NP_001335841.1:n.*16-4572G>A
NM_001348913.2:c.*16-4572G>A (DYNC2LI1) NP_001335842.1:n.*16-4572G>A