Canonical Allele Identifier: CA2578371578

Gene: SLCO6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391006_102391007dup , CM000667.2:g.102391006_102391007dup	GRCh38
NC_000005.9:g.101726710_101726711dup , CM000667.1:g.101726710_101726711dup	GRCh37
NC_000005.8:g.101754609_101754610dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1853_1854dup MANE Select	ENSP00000421339.1:p.Ser619Ter
ENST00000379807.7:c.1853_1854dup	ENSP00000369135.3:p.Ser619Ter
ENST00000389019.7:c.1667_1668dup	ENSP00000373671.3:p.Ser557Ter
ENST00000506729.5:c.1853_1854dup	ENSP00000421339.1:p.Ser619Ter
ENST00000513675.1:c.1094_1095dup	ENSP00000421990.1:p.Ser366Ter
ENST00000514765.6:n.223_224dup
NM_001289002.1:c.1853_1854dup	NP_001275931.1:p.Ser619Ter
NM_001289004.1:c.1667_1668dup	NP_001275933.1:p.Ser557Ter
NM_001308014.1:c.1094_1095dup	NP_001294943.1:p.Ser366Ter
NM_173488.4:c.1853_1854dup	NP_775759.3:p.Ser619Ter
XM_005271874.2:c.1853_1854dup	XP_005271931.1:p.Ser619Ter
XM_011543147.1:c.1748_1749dup	XP_011541449.1:p.Ser584Ter
XM_011543148.1:c.1616_1617dup	XP_011541450.1:p.Ser540Ter
XM_011543149.1:c.1280_1281dup	XP_011541451.1:p.Ser428Ter
XM_011543150.1:c.1124_1125dup	XP_011541452.1:p.Ser376Ter
XM_011543151.1:c.1094_1095dup	XP_011541453.1:p.Ser366Ter
XM_011543153.1:c.1031_1032dup	XP_011541455.1:p.Ser345Ter
XM_005271874.3:c.1853_1854dup	XP_005271931.1:p.Ser619Ter
XM_011543147.2:c.1748_1749dup	XP_011541449.1:p.Ser584Ter
XM_011543148.2:c.1616_1617dup	XP_011541450.1:p.Ser540Ter
XM_011543153.2:c.1031_1032dup	XP_011541455.1:p.Ser345Ter
NM_001289002.2:c.1853_1854dup	NP_001275931.1:p.Ser619Ter
NM_001289004.2:c.1667_1668dup	NP_001275933.1:p.Ser557Ter
NM_001308014.2:c.1094_1095dup	NP_001294943.1:p.Ser366Ter
NM_173488.5:c.1853_1854dup MANE Select	NP_775759.3:p.Ser619Ter