Canonical Allele Identifier: CA346664277

Gene: ABCG5 DYNC2LI1

Linked Data

• MyVariant Identifiers: chr2:g.44051172A>T (hg19) ; chr2:g.43824033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824033A>T , CM000664.2:g.43824033A>T	GRCh38
NC_000002.11:g.44051172A>T , CM000664.1:g.44051172A>T	GRCh37
NC_000002.10:g.43904676A>T	NCBI36
NG_008883.1:g.19787T>A
NG_053008.1:g.54995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1204T>A (ABCG5) MANE Select	ENSP00000384513.2:p.Phe402Ile
ENST00000644754.1:n.1588T>A (ABCG5)
ENST00000260645.5:c.1204T>A (ABCG5)	ENSP00000260645.1:p.Phe402Ile
ENST00000405322.5:c.691T>A (ABCG5)	ENSP00000384513.1:p.Phe231Ile
ENST00000409962.1:c.*78T>A (ABCG5)	ENSP00000386501.1:n.*78T>A
ENST00000486512.5:c.*473T>A (ABCG5)	ENSP00000430935.1:n.*473T>A
NM_022436.2:c.1204T>A (ABCG5)	NP_071881.1:p.Phe402Ile
XM_005264364.3:c.*16-3353A>T (DYNC2LI1)	XP_005264421.1:n.*16-3353A>T
XM_005264365.3:c.*16-3353A>T (DYNC2LI1)	XP_005264422.1:n.*16-3353A>T
XM_005264480.2:c.1204T>A (ABCG5)	XP_005264537.1:p.Phe402Ile
XM_006712073.2:c.1204T>A (ABCG5)	XP_006712136.1:p.Phe402Ile
XM_011533024.1:c.1189+15T>A (ABCG5)	XP_011531326.1:n.1189+15T>A
XM_011533025.1:c.961T>A (ABCG5)	XP_011531327.1:p.Phe321Ile
XM_011533026.1:c.934T>A (ABCG5)	XP_011531328.1:p.Phe312Ile
XM_011533027.1:c.691T>A (ABCG5)	XP_011531329.1:p.Phe231Ile
XM_011533028.1:c.367T>A (ABCG5)	XP_011531330.1:p.Phe123Ile
NM_001348912.1:c.*16-3353A>T (DYNC2LI1)	NP_001335841.1:n.*16-3353A>T
NM_001348913.1:c.*16-3353A>T (DYNC2LI1)	NP_001335842.1:n.*16-3353A>T
XM_005264480.4:c.1204T>A (ABCG5)	XP_005264537.1:p.Phe402Ile
XM_006712073.3:c.1204T>A (ABCG5)	XP_006712136.1:p.Phe402Ile
XM_011533024.2:c.1189+15T>A (ABCG5)	XP_011531326.1:n.1189+15T>A
XM_011533025.3:c.961T>A (ABCG5)	XP_011531327.1:p.Phe321Ile
XM_011533026.2:c.934T>A (ABCG5)	XP_011531328.1:p.Phe312Ile
XM_011533027.3:c.691T>A (ABCG5)	XP_011531329.1:p.Phe231Ile
XM_011533028.2:c.367T>A (ABCG5)	XP_011531330.1:p.Phe123Ile
NM_022436.3:c.1204T>A (ABCG5) MANE Select	NP_071881.1:p.Phe402Ile
NM_001348912.2:c.*16-3353A>T (DYNC2LI1)	NP_001335841.1:n.*16-3353A>T
NM_001348913.2:c.*16-3353A>T (DYNC2LI1)	NP_001335842.1:n.*16-3353A>T