Canonical Allele Identifier: CA346664220

Gene: ABCG5 DYNC2LI1

Linked Data

• ClinVar Variation Id: 3227753
• ClinVar RCV Id: RCV004517502
• MyVariant Identifiers: chr2:g.44051142G>C (hg19) ; chr2:g.43824003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824003G>C , CM000664.2:g.43824003G>C	GRCh38
NC_000002.11:g.44051142G>C , CM000664.1:g.44051142G>C	GRCh37
NC_000002.10:g.43904646G>C	NCBI36
NG_008883.1:g.19817C>G
NG_053008.1:g.54965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1234C>G (ABCG5) MANE Select	ENSP00000384513.2:p.Leu412Val
ENST00000644754.1:n.1618C>G (ABCG5)
ENST00000260645.5:c.1234C>G (ABCG5)	ENSP00000260645.1:p.Leu412Val
ENST00000405322.5:c.721C>G (ABCG5)	ENSP00000384513.1:p.Leu241Val
ENST00000409962.1:c.*108C>G (ABCG5)	ENSP00000386501.1:n.*108C>G
ENST00000486512.5:c.*503C>G (ABCG5)	ENSP00000430935.1:n.*503C>G
NM_022436.2:c.1234C>G (ABCG5)	NP_071881.1:p.Leu412Val
XM_005264364.3:c.*16-3383G>C (DYNC2LI1)	XP_005264421.1:n.*16-3383G>C
XM_005264365.3:c.*16-3383G>C (DYNC2LI1)	XP_005264422.1:n.*16-3383G>C
XM_005264480.2:c.1234C>G (ABCG5)	XP_005264537.1:p.Leu412Val
XM_006712073.2:c.1234C>G (ABCG5)	XP_006712136.1:p.Leu412Val
XM_011533024.1:c.1189+45C>G (ABCG5)	XP_011531326.1:n.1189+45C>G
XM_011533025.1:c.991C>G (ABCG5)	XP_011531327.1:p.Leu331Val
XM_011533026.1:c.964C>G (ABCG5)	XP_011531328.1:p.Leu322Val
XM_011533027.1:c.721C>G (ABCG5)	XP_011531329.1:p.Leu241Val
XM_011533028.1:c.397C>G (ABCG5)	XP_011531330.1:p.Leu133Val
NM_001348912.1:c.*16-3383G>C (DYNC2LI1)	NP_001335841.1:n.*16-3383G>C
NM_001348913.1:c.*16-3383G>C (DYNC2LI1)	NP_001335842.1:n.*16-3383G>C
XM_005264480.4:c.1234C>G (ABCG5)	XP_005264537.1:p.Leu412Val
XM_006712073.3:c.1234C>G (ABCG5)	XP_006712136.1:p.Leu412Val
XM_011533024.2:c.1189+45C>G (ABCG5)	XP_011531326.1:n.1189+45C>G
XM_011533025.3:c.991C>G (ABCG5)	XP_011531327.1:p.Leu331Val
XM_011533026.2:c.964C>G (ABCG5)	XP_011531328.1:p.Leu322Val
XM_011533027.3:c.721C>G (ABCG5)	XP_011531329.1:p.Leu241Val
XM_011533028.2:c.397C>G (ABCG5)	XP_011531330.1:p.Leu133Val
NM_022436.3:c.1234C>G (ABCG5) MANE Select	NP_071881.1:p.Leu412Val
NM_001348912.2:c.*16-3383G>C (DYNC2LI1)	NP_001335841.1:n.*16-3383G>C
NM_001348913.2:c.*16-3383G>C (DYNC2LI1)	NP_001335842.1:n.*16-3383G>C