Canonical Allele Identifier: CA346664378

Gene: ABCG5 DYNC2LI1

Linked Data

• MyVariant Identifiers: chr2:g.44051222G>T (hg19) ; chr2:g.43824083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824083G>T , CM000664.2:g.43824083G>T	GRCh38
NC_000002.11:g.44051222G>T , CM000664.1:g.44051222G>T	GRCh37
NC_000002.10:g.43904726G>T	NCBI36
NG_008883.1:g.19737C>A
NG_053008.1:g.55045G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.1154C>A (ABCG5) MANE Select	ENSP00000384513.2:p.Ala385Glu
ENST00000644754.1:n.1538C>A (ABCG5)
ENST00000260645.5:c.1154C>A (ABCG5)	ENSP00000260645.1:p.Ala385Glu
ENST00000405322.5:c.641C>A (ABCG5)	ENSP00000384513.1:p.Ala214Glu
ENST00000409962.1:c.*28C>A (ABCG5)	ENSP00000386501.1:n.*28C>A
ENST00000486512.5:c.*423C>A (ABCG5)	ENSP00000430935.1:n.*423C>A
NM_022436.2:c.1154C>A (ABCG5)	NP_071881.1:p.Ala385Glu
XM_005264364.3:c.*16-3303G>T (DYNC2LI1)	XP_005264421.1:n.*16-3303G>T
XM_005264365.3:c.*16-3303G>T (DYNC2LI1)	XP_005264422.1:n.*16-3303G>T
XM_005264480.2:c.1154C>A (ABCG5)	XP_005264537.1:p.Ala385Glu
XM_006712073.2:c.1154C>A (ABCG5)	XP_006712136.1:p.Ala385Glu
XM_011533024.1:c.1154C>A (ABCG5)	XP_011531326.1:p.Ala385Glu
XM_011533025.1:c.911C>A (ABCG5)	XP_011531327.1:p.Ala304Glu
XM_011533026.1:c.884C>A (ABCG5)	XP_011531328.1:p.Ala295Glu
XM_011533027.1:c.641C>A (ABCG5)	XP_011531329.1:p.Ala214Glu
XM_011533028.1:c.317C>A (ABCG5)	XP_011531330.1:p.Ala106Glu
NM_001348912.1:c.*16-3303G>T (DYNC2LI1)	NP_001335841.1:n.*16-3303G>T
NM_001348913.1:c.*16-3303G>T (DYNC2LI1)	NP_001335842.1:n.*16-3303G>T
XM_005264480.4:c.1154C>A (ABCG5)	XP_005264537.1:p.Ala385Glu
XM_006712073.3:c.1154C>A (ABCG5)	XP_006712136.1:p.Ala385Glu
XM_011533024.2:c.1154C>A (ABCG5)	XP_011531326.1:p.Ala385Glu
XM_011533025.3:c.911C>A (ABCG5)	XP_011531327.1:p.Ala304Glu
XM_011533026.2:c.884C>A (ABCG5)	XP_011531328.1:p.Ala295Glu
XM_011533027.3:c.641C>A (ABCG5)	XP_011531329.1:p.Ala214Glu
XM_011533028.2:c.317C>A (ABCG5)	XP_011531330.1:p.Ala106Glu
NM_022436.3:c.1154C>A (ABCG5) MANE Select	NP_071881.1:p.Ala385Glu
NM_001348912.2:c.*16-3303G>T (DYNC2LI1)	NP_001335841.1:n.*16-3303G>T
NM_001348913.2:c.*16-3303G>T (DYNC2LI1)	NP_001335842.1:n.*16-3303G>T