Canonical Allele Identifier: CA346664391

Gene: ABCG5 DYNC2LI1

Linked Data

• gnomAD v4: 2-43824090-T-C
• MyVariant Identifiers: chr2:g.44051229T>C (hg19) ; chr2:g.43824090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824090T>C , CM000664.2:g.43824090T>C	GRCh38
NC_000002.11:g.44051229T>C , CM000664.1:g.44051229T>C	GRCh37
NC_000002.10:g.43904733T>C	NCBI36
NG_008883.1:g.19730A>G
NG_053008.1:g.55052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1147A>G (ABCG5) MANE Select	ENSP00000384513.2:p.Lys383Glu
ENST00000644754.1:n.1531A>G (ABCG5)
ENST00000260645.5:c.1147A>G (ABCG5)	ENSP00000260645.1:p.Lys383Glu
ENST00000405322.5:c.634A>G (ABCG5)	ENSP00000384513.1:p.Lys212Glu
ENST00000409962.1:c.*21A>G (ABCG5)	ENSP00000386501.1:n.*21A>G
ENST00000486512.5:c.*416A>G (ABCG5)	ENSP00000430935.1:n.*416A>G
NM_022436.2:c.1147A>G (ABCG5)	NP_071881.1:p.Lys383Glu
XM_005264364.3:c.*16-3296T>C (DYNC2LI1)	XP_005264421.1:n.*16-3296T>C
XM_005264365.3:c.*16-3296T>C (DYNC2LI1)	XP_005264422.1:n.*16-3296T>C
XM_005264480.2:c.1147A>G (ABCG5)	XP_005264537.1:p.Lys383Glu
XM_006712073.2:c.1147A>G (ABCG5)	XP_006712136.1:p.Lys383Glu
XM_011533024.1:c.1147A>G (ABCG5)	XP_011531326.1:p.Lys383Glu
XM_011533025.1:c.904A>G (ABCG5)	XP_011531327.1:p.Lys302Glu
XM_011533026.1:c.877A>G (ABCG5)	XP_011531328.1:p.Lys293Glu
XM_011533027.1:c.634A>G (ABCG5)	XP_011531329.1:p.Lys212Glu
XM_011533028.1:c.310A>G (ABCG5)	XP_011531330.1:p.Lys104Glu
NM_001348912.1:c.*16-3296T>C (DYNC2LI1)	NP_001335841.1:n.*16-3296T>C
NM_001348913.1:c.*16-3296T>C (DYNC2LI1)	NP_001335842.1:n.*16-3296T>C
XM_005264480.4:c.1147A>G (ABCG5)	XP_005264537.1:p.Lys383Glu
XM_006712073.3:c.1147A>G (ABCG5)	XP_006712136.1:p.Lys383Glu
XM_011533024.2:c.1147A>G (ABCG5)	XP_011531326.1:p.Lys383Glu
XM_011533025.3:c.904A>G (ABCG5)	XP_011531327.1:p.Lys302Glu
XM_011533026.2:c.877A>G (ABCG5)	XP_011531328.1:p.Lys293Glu
XM_011533027.3:c.634A>G (ABCG5)	XP_011531329.1:p.Lys212Glu
XM_011533028.2:c.310A>G (ABCG5)	XP_011531330.1:p.Lys104Glu
NM_022436.3:c.1147A>G (ABCG5) MANE Select	NP_071881.1:p.Lys383Glu
NM_001348912.2:c.*16-3296T>C (DYNC2LI1)	NP_001335841.1:n.*16-3296T>C
NM_001348913.2:c.*16-3296T>C (DYNC2LI1)	NP_001335842.1:n.*16-3296T>C