Canonical Allele Identifier: CA346664357

Gene: ABCG5 DYNC2LI1

Linked Data

• gnomAD v4: 2-43824072-G-T
• MyVariant Identifiers: chr2:g.44051211G>T (hg19) ; chr2:g.43824072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824072G>T , CM000664.2:g.43824072G>T	GRCh38
NC_000002.11:g.44051211G>T , CM000664.1:g.44051211G>T	GRCh37
NC_000002.10:g.43904715G>T	NCBI36
NG_008883.1:g.19748C>A
NG_053008.1:g.55034G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405322.8:c.1165C>A (ABCG5) MANE Select	ENSP00000384513.2:p.Arg389Ser
ENST00000644754.1:n.1549C>A (ABCG5)
ENST00000260645.5:c.1165C>A (ABCG5)	ENSP00000260645.1:p.Arg389Ser
ENST00000405322.5:c.652C>A (ABCG5)	ENSP00000384513.1:p.Arg218Ser
ENST00000409962.1:c.*39C>A (ABCG5)	ENSP00000386501.1:n.*39C>A
ENST00000486512.5:c.*434C>A (ABCG5)	ENSP00000430935.1:n.*434C>A
NM_022436.2:c.1165C>A (ABCG5)	NP_071881.1:p.Arg389Ser
XM_005264364.3:c.*16-3314G>T (DYNC2LI1)	XP_005264421.1:n.*16-3314G>T
XM_005264365.3:c.*16-3314G>T (DYNC2LI1)	XP_005264422.1:n.*16-3314G>T
XM_005264480.2:c.1165C>A (ABCG5)	XP_005264537.1:p.Arg389Ser
XM_006712073.2:c.1165C>A (ABCG5)	XP_006712136.1:p.Arg389Ser
XM_011533024.1:c.1165C>A (ABCG5)	XP_011531326.1:p.Arg389Ser
XM_011533025.1:c.922C>A (ABCG5)	XP_011531327.1:p.Arg308Ser
XM_011533026.1:c.895C>A (ABCG5)	XP_011531328.1:p.Arg299Ser
XM_011533027.1:c.652C>A (ABCG5)	XP_011531329.1:p.Arg218Ser
XM_011533028.1:c.328C>A (ABCG5)	XP_011531330.1:p.Arg110Ser
NM_001348912.1:c.*16-3314G>T (DYNC2LI1)	NP_001335841.1:n.*16-3314G>T
NM_001348913.1:c.*16-3314G>T (DYNC2LI1)	NP_001335842.1:n.*16-3314G>T
XM_005264480.4:c.1165C>A (ABCG5)	XP_005264537.1:p.Arg389Ser
XM_006712073.3:c.1165C>A (ABCG5)	XP_006712136.1:p.Arg389Ser
XM_011533024.2:c.1165C>A (ABCG5)	XP_011531326.1:p.Arg389Ser
XM_011533025.3:c.922C>A (ABCG5)	XP_011531327.1:p.Arg308Ser
XM_011533026.2:c.895C>A (ABCG5)	XP_011531328.1:p.Arg299Ser
XM_011533027.3:c.652C>A (ABCG5)	XP_011531329.1:p.Arg218Ser
XM_011533028.2:c.328C>A (ABCG5)	XP_011531330.1:p.Arg110Ser
NM_022436.3:c.1165C>A (ABCG5) MANE Select	NP_071881.1:p.Arg389Ser
NM_001348912.2:c.*16-3314G>T (DYNC2LI1)	NP_001335841.1:n.*16-3314G>T
NM_001348913.2:c.*16-3314G>T (DYNC2LI1)	NP_001335842.1:n.*16-3314G>T