Canonical Allele Identifier: CA346664361

Gene: ABCG5 DYNC2LI1

Linked Data

• MyVariant Identifiers: chr2:g.44051214T>C (hg19) ; chr2:g.43824075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824075T>C , CM000664.2:g.43824075T>C	GRCh38
NC_000002.11:g.44051214T>C , CM000664.1:g.44051214T>C	GRCh37
NC_000002.10:g.43904718T>C	NCBI36
NG_008883.1:g.19745A>G
NG_053008.1:g.55037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1162A>G (ABCG5) MANE Select	ENSP00000384513.2:p.Thr388Ala
ENST00000644754.1:n.1546A>G (ABCG5)
ENST00000260645.5:c.1162A>G (ABCG5)	ENSP00000260645.1:p.Thr388Ala
ENST00000405322.5:c.649A>G (ABCG5)	ENSP00000384513.1:p.Thr217Ala
ENST00000409962.1:c.*36A>G (ABCG5)	ENSP00000386501.1:n.*36A>G
ENST00000486512.5:c.*431A>G (ABCG5)	ENSP00000430935.1:n.*431A>G
NM_022436.2:c.1162A>G (ABCG5)	NP_071881.1:p.Thr388Ala
XM_005264364.3:c.*16-3311T>C (DYNC2LI1)	XP_005264421.1:n.*16-3311T>C
XM_005264365.3:c.*16-3311T>C (DYNC2LI1)	XP_005264422.1:n.*16-3311T>C
XM_005264480.2:c.1162A>G (ABCG5)	XP_005264537.1:p.Thr388Ala
XM_006712073.2:c.1162A>G (ABCG5)	XP_006712136.1:p.Thr388Ala
XM_011533024.1:c.1162A>G (ABCG5)	XP_011531326.1:p.Thr388Ala
XM_011533025.1:c.919A>G (ABCG5)	XP_011531327.1:p.Thr307Ala
XM_011533026.1:c.892A>G (ABCG5)	XP_011531328.1:p.Thr298Ala
XM_011533027.1:c.649A>G (ABCG5)	XP_011531329.1:p.Thr217Ala
XM_011533028.1:c.325A>G (ABCG5)	XP_011531330.1:p.Thr109Ala
NM_001348912.1:c.*16-3311T>C (DYNC2LI1)	NP_001335841.1:n.*16-3311T>C
NM_001348913.1:c.*16-3311T>C (DYNC2LI1)	NP_001335842.1:n.*16-3311T>C
XM_005264480.4:c.1162A>G (ABCG5)	XP_005264537.1:p.Thr388Ala
XM_006712073.3:c.1162A>G (ABCG5)	XP_006712136.1:p.Thr388Ala
XM_011533024.2:c.1162A>G (ABCG5)	XP_011531326.1:p.Thr388Ala
XM_011533025.3:c.919A>G (ABCG5)	XP_011531327.1:p.Thr307Ala
XM_011533026.2:c.892A>G (ABCG5)	XP_011531328.1:p.Thr298Ala
XM_011533027.3:c.649A>G (ABCG5)	XP_011531329.1:p.Thr217Ala
XM_011533028.2:c.325A>G (ABCG5)	XP_011531330.1:p.Thr109Ala
NM_022436.3:c.1162A>G (ABCG5) MANE Select	NP_071881.1:p.Thr388Ala
NM_001348912.2:c.*16-3311T>C (DYNC2LI1)	NP_001335841.1:n.*16-3311T>C
NM_001348913.2:c.*16-3311T>C (DYNC2LI1)	NP_001335842.1:n.*16-3311T>C