Canonical Allele Identifier: CA360573808

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726688A>G (hg19) ; chr5:g.102390984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390984A>G , CM000667.2:g.102390984A>G	GRCh38
NC_000005.9:g.101726688A>G , CM000667.1:g.101726688A>G	GRCh37
NC_000005.8:g.101754587A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1876T>C MANE Select	ENSP00000421339.1:p.Phe626Leu
ENST00000379807.7:c.1876T>C	ENSP00000369135.3:p.Phe626Leu
ENST00000389019.7:c.1690T>C	ENSP00000373671.3:p.Phe564Leu
ENST00000506729.5:c.1876T>C	ENSP00000421339.1:p.Phe626Leu
ENST00000513675.1:c.1117T>C	ENSP00000421990.1:p.Phe373Leu
ENST00000514765.6:n.246T>C
NM_001289002.1:c.1876T>C	NP_001275931.1:p.Phe626Leu
NM_001289004.1:c.1690T>C	NP_001275933.1:p.Phe564Leu
NM_001308014.1:c.1117T>C	NP_001294943.1:p.Phe373Leu
NM_173488.4:c.1876T>C	NP_775759.3:p.Phe626Leu
XM_005271874.2:c.1876T>C	XP_005271931.1:p.Phe626Leu
XM_011543147.1:c.1771T>C	XP_011541449.1:p.Phe591Leu
XM_011543148.1:c.1639T>C	XP_011541450.1:p.Phe547Leu
XM_011543149.1:c.1303T>C	XP_011541451.1:p.Phe435Leu
XM_011543150.1:c.1147T>C	XP_011541452.1:p.Phe383Leu
XM_011543151.1:c.1117T>C	XP_011541453.1:p.Phe373Leu
XM_011543153.1:c.1054T>C	XP_011541455.1:p.Phe352Leu
XM_005271874.3:c.1876T>C	XP_005271931.1:p.Phe626Leu
XM_011543147.2:c.1771T>C	XP_011541449.1:p.Phe591Leu
XM_011543148.2:c.1639T>C	XP_011541450.1:p.Phe547Leu
XM_011543153.2:c.1054T>C	XP_011541455.1:p.Phe352Leu
NM_001289002.2:c.1876T>C	NP_001275931.1:p.Phe626Leu
NM_001289004.2:c.1690T>C	NP_001275933.1:p.Phe564Leu
NM_001308014.2:c.1117T>C	NP_001294943.1:p.Phe373Leu
NM_173488.5:c.1876T>C MANE Select	NP_775759.3:p.Phe626Leu