Canonical Allele Identifier: CA1636341
Community Standard Title: NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43823926G>A , CM000664.2:g.43823926G>A GRCh38
NC_000002.11:g.44051065G>A , CM000664.1:g.44051065G>A GRCh37
NC_000002.10:g.43904569G>A NCBI36
NG_008883.1:g.19894C>T
NG_053008.1:g.54888G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1311C>T (ABCG5) MANE Select NP_071881.1:p.Asn437=
ENST00000405322.8:c.1311C>T (ABCG5) MANE Select ENSP00000384513.2:p.Asn437=
NM_001348912.1:c.*16-3460G>A (DYNC2LI1) NP_001335841.1:n.*16-3460G>A
NM_001348912.2:c.*16-3460G>A (DYNC2LI1) NP_001335841.1:n.*16-3460G>A
NM_001348913.1:c.*16-3460G>A (DYNC2LI1) NP_001335842.1:n.*16-3460G>A
NM_001348913.2:c.*16-3460G>A (DYNC2LI1) NP_001335842.1:n.*16-3460G>A
NM_022436.2:c.1311C>T (ABCG5) NP_071881.1:p.Asn437=
ENST00000260645.5:c.1311C>T (ABCG5) ENSP00000260645.1:p.Asn437=
ENST00000405322.5:c.798C>T (ABCG5) ENSP00000384513.1:p.Asn266=
ENST00000409962.1:c.*185C>T (ABCG5) ENSP00000386501.1:n.*185C>T
ENST00000486512.5:c.*580C>T (ABCG5) ENSP00000430935.1:n.*580C>T
ENST00000644754.1:n.1695C>T (ABCG5)
XM_005264364.3:c.*16-3460G>A (DYNC2LI1) XP_005264421.1:n.*16-3460G>A
XM_005264365.3:c.*16-3460G>A (DYNC2LI1) XP_005264422.1:n.*16-3460G>A
XM_005264480.2:c.1311C>T (ABCG5) XP_005264537.1:p.Asn437=
XM_005264480.4:c.1311C>T (ABCG5) XP_005264537.1:p.Asn437=
XM_006712073.2:c.1311C>T (ABCG5) XP_006712136.1:p.Asn437=
XM_006712073.3:c.1311C>T (ABCG5) XP_006712136.1:p.Asn437=
XM_011533024.1:c.1189+122C>T (ABCG5) XP_011531326.1:n.1189+122C>T
XM_011533024.2:c.1189+122C>T (ABCG5) XP_011531326.1:n.1189+122C>T
XM_011533025.1:c.1068C>T (ABCG5) XP_011531327.1:p.Asn356=
XM_011533025.3:c.1068C>T (ABCG5) XP_011531327.1:p.Asn356=
XM_011533026.1:c.1041C>T (ABCG5) XP_011531328.1:p.Asn347=
XM_011533026.2:c.1041C>T (ABCG5) XP_011531328.1:p.Asn347=
XM_011533027.1:c.798C>T (ABCG5) XP_011531329.1:p.Asn266=
XM_011533027.3:c.798C>T (ABCG5) XP_011531329.1:p.Asn266=
XM_011533028.1:c.474C>T (ABCG5) XP_011531330.1:p.Asn158=
XM_011533028.2:c.474C>T (ABCG5) XP_011531330.1:p.Asn158=