Canonical Allele Identifier: CA532702894

Gene: ABCG5 DYNC2LI1

Linked Data

• dbSNP Id: rs1397652775
• gnomAD v2: 2-44051308-G-T
• gnomAD v4: 2-43824169-G-T
• MyVariant Identifiers: chr2:g.44051308G>T (hg19) ; chr2:g.43824169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43824169G>T , CM000664.2:g.43824169G>T	GRCh38
NC_000002.11:g.44051308G>T , CM000664.1:g.44051308G>T	GRCh37
NC_000002.10:g.43904812G>T	NCBI36
NG_008883.1:g.19651C>A
NG_053008.1:g.55131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405322.8:c.1119-51C>A (ABCG5) MANE Select	ENSP00000384513.2:n.1119-51C>A
ENST00000644754.1:n.1503-51C>A (ABCG5)
ENST00000260645.5:c.1119-51C>A (ABCG5)	ENSP00000260645.1:n.1119-51C>A
ENST00000405322.5:c.606-51C>A (ABCG5)	ENSP00000384513.1:n.606-51C>A
ENST00000409962.1:c.392-51C>A (ABCG5)	ENSP00000386501.1:n.392-51C>A
ENST00000486512.5:c.*388-51C>A (ABCG5)	ENSP00000430935.1:n.*388-51C>A
NM_022436.2:c.1119-51C>A (ABCG5)	NP_071881.1:n.1119-51C>A
XM_005264364.3:c.*16-3217G>T (DYNC2LI1)	XP_005264421.1:n.*16-3217G>T
XM_005264365.3:c.*16-3217G>T (DYNC2LI1)	XP_005264422.1:n.*16-3217G>T
XM_005264480.2:c.1119-51C>A (ABCG5)	XP_005264537.1:n.1119-51C>A
XM_006712073.2:c.1119-51C>A (ABCG5)	XP_006712136.1:n.1119-51C>A
XM_011533024.1:c.1119-51C>A (ABCG5)	XP_011531326.1:n.1119-51C>A
XM_011533025.1:c.876-51C>A (ABCG5)	XP_011531327.1:n.876-51C>A
XM_011533026.1:c.849-51C>A (ABCG5)	XP_011531328.1:n.849-51C>A
XM_011533027.1:c.606-51C>A (ABCG5)	XP_011531329.1:n.606-51C>A
XM_011533028.1:c.282-51C>A (ABCG5)	XP_011531330.1:n.282-51C>A
NM_001348912.1:c.*16-3217G>T (DYNC2LI1)	NP_001335841.1:n.*16-3217G>T
NM_001348913.1:c.*16-3217G>T (DYNC2LI1)	NP_001335842.1:n.*16-3217G>T
XM_005264480.4:c.1119-51C>A (ABCG5)	XP_005264537.1:n.1119-51C>A
XM_006712073.3:c.1119-51C>A (ABCG5)	XP_006712136.1:n.1119-51C>A
XM_011533024.2:c.1119-51C>A (ABCG5)	XP_011531326.1:n.1119-51C>A
XM_011533025.3:c.876-51C>A (ABCG5)	XP_011531327.1:n.876-51C>A
XM_011533026.2:c.849-51C>A (ABCG5)	XP_011531328.1:n.849-51C>A
XM_011533027.3:c.606-51C>A (ABCG5)	XP_011531329.1:n.606-51C>A
XM_011533028.2:c.282-51C>A (ABCG5)	XP_011531330.1:n.282-51C>A
NM_022436.3:c.1119-51C>A (ABCG5) MANE Select	NP_071881.1:n.1119-51C>A
NM_001348912.2:c.*16-3217G>T (DYNC2LI1)	NP_001335841.1:n.*16-3217G>T
NM_001348913.2:c.*16-3217G>T (DYNC2LI1)	NP_001335842.1:n.*16-3217G>T