Canonical Allele Identifier: CA233489578

Gene: SLCO1C1

Linked Data

• dbSNP Id: rs143641721
• gnomAD v2: 12-20857176-G-GAT
• gnomAD v3: 12-20704242-G-GAT
• gnomAD v4: 12-20704242-G-GAT
• MyVariant Identifiers: chr12:g.20857180_20857181insAT (hg19) ; chr12:g.20857176_20857177insAT (hg19) ; chr12:g.20704246_20704247insAT (hg38) ; chr12:g.20704242_20704243insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.20704255_20704256dup , CM000674.2:g.20704255_20704256dup	GRCh38
NC_000012.11:g.20857189_20857190dup , CM000674.1:g.20857189_20857190dup	GRCh37
NC_000012.10:g.20748456_20748457dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266509.7:c.272-1694_272-1693dup MANE Select	ENSP00000266509.2:n.272-1694_272-1693dup
ENST00000266509.6:c.272-1694_272-1693dup	ENSP00000266509.2:n.272-1694_272-1693dup
ENST00000539415.5:c.129+4550_129+4551dup	ENSP00000437399.1:n.129+4550_129+4551dup
ENST00000540354.5:c.272-1694_272-1693dup	ENSP00000438665.1:n.272-1694_272-1693dup
ENST00000545102.1:c.-83-1694_-83-1693dup	ENSP00000444527.1:n.-83-1694_-83-1693dup
ENST00000545604.5:c.272-1694_272-1693dup	ENSP00000444149.1:n.272-1694_272-1693dup
NM_001145944.1:c.-83-1694_-83-1693dup	NP_001139416.1:n.-83-1694_-83-1693dup
NM_001145945.1:c.272-1694_272-1693dup	NP_001139417.1:n.272-1694_272-1693dup
NM_001145946.1:c.272-1694_272-1693dup	NP_001139418.1:n.272-1694_272-1693dup
NM_017435.4:c.272-1694_272-1693dup	NP_059131.1:n.272-1694_272-1693dup
XM_005253394.1:c.272-1694_272-1693dup	XP_005253451.1:n.272-1694_272-1693dup
XM_005253396.1:c.-83-1694_-83-1693dup	XP_005253453.1:n.-83-1694_-83-1693dup
XM_005253397.2:c.272-1694_272-1693dup	XP_005253454.1:n.272-1694_272-1693dup
XM_011520703.1:c.272-1694_272-1693dup	XP_011519005.1:n.272-1694_272-1693dup
XM_011520704.1:c.272-1694_272-1693dup	XP_011519006.1:n.272-1694_272-1693dup
XM_011520705.1:c.272-1694_272-1693dup	XP_011519007.1:n.272-1694_272-1693dup
XM_011520706.1:c.-84+1537_-84+1538dup	XP_011519008.1:n.-84+1537_-84+1538dup
XM_011520707.1:c.-83-1694_-83-1693dup	XP_011519009.1:n.-83-1694_-83-1693dup
XM_011520708.1:c.-83-1694_-83-1693dup	XP_011519010.1:n.-83-1694_-83-1693dup
XM_011520709.1:c.-83-1694_-83-1693dup	XP_011519011.1:n.-83-1694_-83-1693dup
XM_011520710.1:c.272-1694_272-1693dup	XP_011519012.1:n.272-1694_272-1693dup
XM_011520711.1:c.-282-1694_-282-1693dup	XP_011519013.1:n.-282-1694_-282-1693dup
XR_931308.1:n.627-1694_627-1693dup
XM_005253394.3:c.272-1694_272-1693dup	XP_005253451.1:n.272-1694_272-1693dup
XM_005253396.3:c.-83-1694_-83-1693dup	XP_005253453.1:n.-83-1694_-83-1693dup
XM_011520703.3:c.272-1694_272-1693dup	XP_011519005.1:n.272-1694_272-1693dup
XM_011520704.3:c.272-1694_272-1693dup	XP_011519006.1:n.272-1694_272-1693dup
XM_011520711.3:c.-282-1694_-282-1693dup	XP_011519013.1:n.-282-1694_-282-1693dup
XM_017019486.2:c.-83-1694_-83-1693dup	XP_016874975.1:n.-83-1694_-83-1693dup
XM_017019487.2:c.-83-1694_-83-1693dup	XP_016874976.1:n.-83-1694_-83-1693dup
XM_017019489.2:c.-440+1537_-440+1538dup	XP_016874978.1:n.-440+1537_-440+1538dup
XM_017019490.2:c.-404+1537_-404+1538dup	XP_016874979.1:n.-404+1537_-404+1538dup
XM_024449024.1:c.-84+1537_-84+1538dup	XP_024304792.1:n.-84+1537_-84+1538dup
XM_024449025.1:c.-83-1694_-83-1693dup	XP_024304793.1:n.-83-1694_-83-1693dup
XR_001748768.2:n.13685-1694_13685-1693dup
XR_001748769.2:n.13685-1694_13685-1693dup
XR_001748770.2:n.13685-1694_13685-1693dup
XR_001748771.2:n.14182-1694_14182-1693dup
NM_001145944.2:c.-83-1694_-83-1693dup	NP_001139416.1:n.-83-1694_-83-1693dup
NM_001145945.2:c.272-1694_272-1693dup	NP_001139417.1:n.272-1694_272-1693dup
NM_001145946.2:c.272-1694_272-1693dup	NP_001139418.1:n.272-1694_272-1693dup
NM_017435.5:c.272-1694_272-1693dup MANE Select	NP_059131.1:n.272-1694_272-1693dup