Canonical Allele Identifier: CA123847381

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs965640971
• gnomAD v3: 5-102391444-G-GC
• gnomAD v4: 5-102391444-G-GC
• MyVariant Identifiers: chr5:g.101727148_101727149insC (hg19) ; chr5:g.102391444_102391445insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391448dup , CM000667.2:g.102391448dup	GRCh38
NC_000005.9:g.101727152dup , CM000667.1:g.101727152dup	GRCh37
NC_000005.8:g.101755051dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1815-400dup MANE Select	ENSP00000421339.1:n.1815-400dup
ENST00000379807.7:c.1815-400dup	ENSP00000369135.3:n.1815-400dup
ENST00000389019.7:c.1629-400dup	ENSP00000373671.3:n.1629-400dup
ENST00000506729.5:c.1815-400dup	ENSP00000421339.1:n.1815-400dup
ENST00000513675.1:c.1056-400dup	ENSP00000421990.1:n.1056-400dup
NM_001289002.1:c.1815-400dup	NP_001275931.1:n.1815-400dup
NM_001289004.1:c.1629-400dup	NP_001275933.1:n.1629-400dup
NM_001308014.1:c.1056-400dup	NP_001294943.1:n.1056-400dup
NM_173488.4:c.1815-400dup	NP_775759.3:n.1815-400dup
XM_005271874.2:c.1815-400dup	XP_005271931.1:n.1815-400dup
XM_011543147.1:c.1710-400dup	XP_011541449.1:n.1710-400dup
XM_011543148.1:c.1578-400dup	XP_011541450.1:n.1578-400dup
XM_011543149.1:c.1242-400dup	XP_011541451.1:n.1242-400dup
XM_011543150.1:c.1086-400dup	XP_011541452.1:n.1086-400dup
XM_011543151.1:c.1056-400dup	XP_011541453.1:n.1056-400dup
XM_011543153.1:c.993-400dup	XP_011541455.1:n.993-400dup
XM_005271874.3:c.1815-400dup	XP_005271931.1:n.1815-400dup
XM_011543147.2:c.1710-400dup	XP_011541449.1:n.1710-400dup
XM_011543148.2:c.1578-400dup	XP_011541450.1:n.1578-400dup
XM_011543153.2:c.993-400dup	XP_011541455.1:n.993-400dup
NM_001289002.2:c.1815-400dup	NP_001275931.1:n.1815-400dup
NM_001289004.2:c.1629-400dup	NP_001275933.1:n.1629-400dup
NM_001308014.2:c.1056-400dup	NP_001294943.1:n.1056-400dup
NM_173488.5:c.1815-400dup MANE Select	NP_775759.3:n.1815-400dup