Canonical Allele Identifier: CA1636351

Gene: ABCG5 DYNC2LI1

Linked Data

• dbSNP Id: rs771475759
• ExAC: 2:44051121 G / C
• gnomAD v2: 2-44051121-G-C
• gnomAD v3: 2-43823982-G-C
• gnomAD v4: 2-43823982-G-C
• MyVariant Identifiers: chr2:g.44051121G>C (hg19) ; chr2:g.43823982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43823982G>C , CM000664.2:g.43823982G>C	GRCh38
NC_000002.11:g.44051121G>C , CM000664.1:g.44051121G>C	GRCh37
NC_000002.10:g.43904625G>C	NCBI36
NG_008883.1:g.19838C>G
NG_053008.1:g.54944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1255C>G (ABCG5) MANE Select	ENSP00000384513.2:p.Arg419Gly
ENST00000644754.1:n.1639C>G (ABCG5)
ENST00000260645.5:c.1255C>G (ABCG5)	ENSP00000260645.1:p.Arg419Gly
ENST00000405322.5:c.742C>G (ABCG5)	ENSP00000384513.1:p.Arg248Gly
ENST00000409962.1:c.*129C>G (ABCG5)	ENSP00000386501.1:n.*129C>G
ENST00000486512.5:c.*524C>G (ABCG5)	ENSP00000430935.1:n.*524C>G
NM_022436.2:c.1255C>G (ABCG5)	NP_071881.1:p.Arg419Gly
XM_005264364.3:c.*16-3404G>C (DYNC2LI1)	XP_005264421.1:n.*16-3404G>C
XM_005264365.3:c.*16-3404G>C (DYNC2LI1)	XP_005264422.1:n.*16-3404G>C
XM_005264480.2:c.1255C>G (ABCG5)	XP_005264537.1:p.Arg419Gly
XM_006712073.2:c.1255C>G (ABCG5)	XP_006712136.1:p.Arg419Gly
XM_011533024.1:c.1189+66C>G (ABCG5)	XP_011531326.1:n.1189+66C>G
XM_011533025.1:c.1012C>G (ABCG5)	XP_011531327.1:p.Arg338Gly
XM_011533026.1:c.985C>G (ABCG5)	XP_011531328.1:p.Arg329Gly
XM_011533027.1:c.742C>G (ABCG5)	XP_011531329.1:p.Arg248Gly
XM_011533028.1:c.418C>G (ABCG5)	XP_011531330.1:p.Arg140Gly
NM_001348912.1:c.*16-3404G>C (DYNC2LI1)	NP_001335841.1:n.*16-3404G>C
NM_001348913.1:c.*16-3404G>C (DYNC2LI1)	NP_001335842.1:n.*16-3404G>C
XM_005264480.4:c.1255C>G (ABCG5)	XP_005264537.1:p.Arg419Gly
XM_006712073.3:c.1255C>G (ABCG5)	XP_006712136.1:p.Arg419Gly
XM_011533024.2:c.1189+66C>G (ABCG5)	XP_011531326.1:n.1189+66C>G
XM_011533025.3:c.1012C>G (ABCG5)	XP_011531327.1:p.Arg338Gly
XM_011533026.2:c.985C>G (ABCG5)	XP_011531328.1:p.Arg329Gly
XM_011533027.3:c.742C>G (ABCG5)	XP_011531329.1:p.Arg248Gly
XM_011533028.2:c.418C>G (ABCG5)	XP_011531330.1:p.Arg140Gly
NM_022436.3:c.1255C>G (ABCG5) MANE Select	NP_071881.1:p.Arg419Gly
NM_001348912.2:c.*16-3404G>C (DYNC2LI1)	NP_001335841.1:n.*16-3404G>C
NM_001348913.2:c.*16-3404G>C (DYNC2LI1)	NP_001335842.1:n.*16-3404G>C