Canonical Allele Identifier: CA346664343

Gene: ABCG5 DYNC2LI1

Linked Data

• MyVariant Identifiers: chr2:g.44051204A>C (hg19) ; chr2:g.43824065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824065A>C , CM000664.2:g.43824065A>C	GRCh38
NC_000002.11:g.44051204A>C , CM000664.1:g.44051204A>C	GRCh37
NC_000002.10:g.43904708A>C	NCBI36
NG_008883.1:g.19755T>G
NG_053008.1:g.55027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1172T>G (ABCG5) MANE Select	ENSP00000384513.2:p.Leu391Arg
ENST00000644754.1:n.1556T>G (ABCG5)
ENST00000260645.5:c.1172T>G (ABCG5)	ENSP00000260645.1:p.Leu391Arg
ENST00000405322.5:c.659T>G (ABCG5)	ENSP00000384513.1:p.Leu220Arg
ENST00000409962.1:c.*46T>G (ABCG5)	ENSP00000386501.1:n.*46T>G
ENST00000486512.5:c.*441T>G (ABCG5)	ENSP00000430935.1:n.*441T>G
NM_022436.2:c.1172T>G (ABCG5)	NP_071881.1:p.Leu391Arg
XM_005264364.3:c.*16-3321A>C (DYNC2LI1)	XP_005264421.1:n.*16-3321A>C
XM_005264365.3:c.*16-3321A>C (DYNC2LI1)	XP_005264422.1:n.*16-3321A>C
XM_005264480.2:c.1172T>G (ABCG5)	XP_005264537.1:p.Leu391Arg
XM_006712073.2:c.1172T>G (ABCG5)	XP_006712136.1:p.Leu391Arg
XM_011533024.1:c.1172T>G (ABCG5)	XP_011531326.1:p.Leu391Arg
XM_011533025.1:c.929T>G (ABCG5)	XP_011531327.1:p.Leu310Arg
XM_011533026.1:c.902T>G (ABCG5)	XP_011531328.1:p.Leu301Arg
XM_011533027.1:c.659T>G (ABCG5)	XP_011531329.1:p.Leu220Arg
XM_011533028.1:c.335T>G (ABCG5)	XP_011531330.1:p.Leu112Arg
NM_001348912.1:c.*16-3321A>C (DYNC2LI1)	NP_001335841.1:n.*16-3321A>C
NM_001348913.1:c.*16-3321A>C (DYNC2LI1)	NP_001335842.1:n.*16-3321A>C
XM_005264480.4:c.1172T>G (ABCG5)	XP_005264537.1:p.Leu391Arg
XM_006712073.3:c.1172T>G (ABCG5)	XP_006712136.1:p.Leu391Arg
XM_011533024.2:c.1172T>G (ABCG5)	XP_011531326.1:p.Leu391Arg
XM_011533025.3:c.929T>G (ABCG5)	XP_011531327.1:p.Leu310Arg
XM_011533026.2:c.902T>G (ABCG5)	XP_011531328.1:p.Leu301Arg
XM_011533027.3:c.659T>G (ABCG5)	XP_011531329.1:p.Leu220Arg
XM_011533028.2:c.335T>G (ABCG5)	XP_011531330.1:p.Leu112Arg
NM_022436.3:c.1172T>G (ABCG5) MANE Select	NP_071881.1:p.Leu391Arg
NM_001348912.2:c.*16-3321A>C (DYNC2LI1)	NP_001335841.1:n.*16-3321A>C
NM_001348913.2:c.*16-3321A>C (DYNC2LI1)	NP_001335842.1:n.*16-3321A>C