Canonical Allele Identifier: CA561319488

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs1351839362
• gnomAD v2: 5-101726695-C-CA
• gnomAD v4: 5-102390991-C-CA
• MyVariant Identifiers: chr5:g.101726695_101726696insA (hg19) ; chr5:g.102390991_102390992insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390995dup , CM000667.2:g.102390995dup	GRCh38
NC_000005.9:g.101726699dup , CM000667.1:g.101726699dup	GRCh37
NC_000005.8:g.101754598dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1868dup MANE Select	ENSP00000421339.1:p.Leu623PhefsTer14
ENST00000379807.7:c.1868dup	ENSP00000369135.3:p.Leu623PhefsTer14
ENST00000389019.7:c.1682dup	ENSP00000373671.3:p.Leu561PhefsTer14
ENST00000506729.5:c.1868dup	ENSP00000421339.1:p.Leu623PhefsTer14
ENST00000513675.1:c.1109dup	ENSP00000421990.1:p.Leu370PhefsTer14
ENST00000514765.6:n.238dup
NM_001289002.1:c.1868dup	NP_001275931.1:p.Leu623PhefsTer14
NM_001289004.1:c.1682dup	NP_001275933.1:p.Leu561PhefsTer14
NM_001308014.1:c.1109dup	NP_001294943.1:p.Leu370PhefsTer14
NM_173488.4:c.1868dup	NP_775759.3:p.Leu623PhefsTer14
XM_005271874.2:c.1868dup	XP_005271931.1:p.Leu623PhefsTer14
XM_011543147.1:c.1763dup	XP_011541449.1:p.Leu588PhefsTer14
XM_011543148.1:c.1631dup	XP_011541450.1:p.Leu544PhefsTer14
XM_011543149.1:c.1295dup	XP_011541451.1:p.Leu432PhefsTer14
XM_011543150.1:c.1139dup	XP_011541452.1:p.Leu380PhefsTer14
XM_011543151.1:c.1109dup	XP_011541453.1:p.Leu370PhefsTer14
XM_011543153.1:c.1046dup	XP_011541455.1:p.Leu349PhefsTer14
XM_005271874.3:c.1868dup	XP_005271931.1:p.Leu623PhefsTer14
XM_011543147.2:c.1763dup	XP_011541449.1:p.Leu588PhefsTer14
XM_011543148.2:c.1631dup	XP_011541450.1:p.Leu544PhefsTer14
XM_011543153.2:c.1046dup	XP_011541455.1:p.Leu349PhefsTer14
NM_001289002.2:c.1868dup	NP_001275931.1:p.Leu623PhefsTer14
NM_001289004.2:c.1682dup	NP_001275933.1:p.Leu561PhefsTer14
NM_001308014.2:c.1109dup	NP_001294943.1:p.Leu370PhefsTer14
NM_173488.5:c.1868dup MANE Select	NP_775759.3:p.Leu623PhefsTer14