Canonical Allele Identifier: CA360574002

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726732A>T (hg19) ; chr5:g.102391028A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391028A>T , CM000667.2:g.102391028A>T	GRCh38
NC_000005.9:g.101726732A>T , CM000667.1:g.101726732A>T	GRCh37
NC_000005.8:g.101754631A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1832T>A MANE Select	ENSP00000421339.1:p.Leu611Gln
ENST00000379807.7:c.1832T>A	ENSP00000369135.3:p.Leu611Gln
ENST00000389019.7:c.1646T>A	ENSP00000373671.3:p.Leu549Gln
ENST00000506729.5:c.1832T>A	ENSP00000421339.1:p.Leu611Gln
ENST00000513675.1:c.1073T>A	ENSP00000421990.1:p.Leu358Gln
ENST00000514765.6:n.202T>A
NM_001289002.1:c.1832T>A	NP_001275931.1:p.Leu611Gln
NM_001289004.1:c.1646T>A	NP_001275933.1:p.Leu549Gln
NM_001308014.1:c.1073T>A	NP_001294943.1:p.Leu358Gln
NM_173488.4:c.1832T>A	NP_775759.3:p.Leu611Gln
XM_005271874.2:c.1832T>A	XP_005271931.1:p.Leu611Gln
XM_011543147.1:c.1727T>A	XP_011541449.1:p.Leu576Gln
XM_011543148.1:c.1595T>A	XP_011541450.1:p.Leu532Gln
XM_011543149.1:c.1259T>A	XP_011541451.1:p.Leu420Gln
XM_011543150.1:c.1103T>A	XP_011541452.1:p.Leu368Gln
XM_011543151.1:c.1073T>A	XP_011541453.1:p.Leu358Gln
XM_011543153.1:c.1010T>A	XP_011541455.1:p.Leu337Gln
XM_005271874.3:c.1832T>A	XP_005271931.1:p.Leu611Gln
XM_011543147.2:c.1727T>A	XP_011541449.1:p.Leu576Gln
XM_011543148.2:c.1595T>A	XP_011541450.1:p.Leu532Gln
XM_011543153.2:c.1010T>A	XP_011541455.1:p.Leu337Gln
NM_001289002.2:c.1832T>A	NP_001275931.1:p.Leu611Gln
NM_001289004.2:c.1646T>A	NP_001275933.1:p.Leu549Gln
NM_001308014.2:c.1073T>A	NP_001294943.1:p.Leu358Gln
NM_173488.5:c.1832T>A MANE Select	NP_775759.3:p.Leu611Gln