Canonical Allele Identifier: CA346664175

Gene: ABCG5 DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43823981C>A , CM000664.2:g.43823981C>A	GRCh38
NC_000002.11:g.44051120C>A , CM000664.1:g.44051120C>A	GRCh37
NC_000002.10:g.43904624C>A	NCBI36
NG_008883.1:g.19839G>T
NG_053008.1:g.54943C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.1256G>T (ABCG5) MANE Select	NP_071881.1:p.Arg419Leu
ENST00000405322.8:c.1256G>T (ABCG5) MANE Select	ENSP00000384513.2:p.Arg419Leu
NM_001348912.1:c.*16-3405C>A (DYNC2LI1)	NP_001335841.1:n.*16-3405C>A
NM_001348912.2:c.*16-3405C>A (DYNC2LI1)	NP_001335841.1:n.*16-3405C>A
NM_001348913.1:c.*16-3405C>A (DYNC2LI1)	NP_001335842.1:n.*16-3405C>A
NM_001348913.2:c.*16-3405C>A (DYNC2LI1)	NP_001335842.1:n.*16-3405C>A
NM_022436.2:c.1256G>T (ABCG5)	NP_071881.1:p.Arg419Leu
ENST00000260645.5:c.1256G>T (ABCG5)	ENSP00000260645.1:p.Arg419Leu
ENST00000405322.5:c.743G>T (ABCG5)	ENSP00000384513.1:p.Arg248Leu
ENST00000409962.1:c.*130G>T (ABCG5)	ENSP00000386501.1:n.*130G>T
ENST00000486512.5:c.*525G>T (ABCG5)	ENSP00000430935.1:n.*525G>T
ENST00000644754.1:n.1640G>T (ABCG5)
XM_005264364.3:c.*16-3405C>A (DYNC2LI1)	XP_005264421.1:n.*16-3405C>A
XM_005264365.3:c.*16-3405C>A (DYNC2LI1)	XP_005264422.1:n.*16-3405C>A
XM_005264480.2:c.1256G>T (ABCG5)	XP_005264537.1:p.Arg419Leu
XM_005264480.4:c.1256G>T (ABCG5)	XP_005264537.1:p.Arg419Leu
XM_006712073.2:c.1256G>T (ABCG5)	XP_006712136.1:p.Arg419Leu
XM_006712073.3:c.1256G>T (ABCG5)	XP_006712136.1:p.Arg419Leu
XM_011533024.1:c.1189+67G>T (ABCG5)	XP_011531326.1:n.1189+67G>T
XM_011533024.2:c.1189+67G>T (ABCG5)	XP_011531326.1:n.1189+67G>T
XM_011533025.1:c.1013G>T (ABCG5)	XP_011531327.1:p.Arg338Leu
XM_011533025.3:c.1013G>T (ABCG5)	XP_011531327.1:p.Arg338Leu
XM_011533026.1:c.986G>T (ABCG5)	XP_011531328.1:p.Arg329Leu
XM_011533026.2:c.986G>T (ABCG5)	XP_011531328.1:p.Arg329Leu
XM_011533027.1:c.743G>T (ABCG5)	XP_011531329.1:p.Arg248Leu
XM_011533027.3:c.743G>T (ABCG5)	XP_011531329.1:p.Arg248Leu
XM_011533028.1:c.419G>T (ABCG5)	XP_011531330.1:p.Arg140Leu
XM_011533028.2:c.419G>T (ABCG5)	XP_011531330.1:p.Arg140Leu