Canonical Allele Identifier: CA360573881

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726704A>T (hg19) ; chr5:g.102391000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391000A>T , CM000667.2:g.102391000A>T	GRCh38
NC_000005.9:g.101726704A>T , CM000667.1:g.101726704A>T	GRCh37
NC_000005.8:g.101754603A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1860T>A MANE Select	ENSP00000421339.1:p.Tyr620Ter
ENST00000379807.7:c.1860T>A	ENSP00000369135.3:p.Tyr620Ter
ENST00000389019.7:c.1674T>A	ENSP00000373671.3:p.Tyr558Ter
ENST00000506729.5:c.1860T>A	ENSP00000421339.1:p.Tyr620Ter
ENST00000513675.1:c.1101T>A	ENSP00000421990.1:p.Tyr367Ter
ENST00000514765.6:n.230T>A
NM_001289002.1:c.1860T>A	NP_001275931.1:p.Tyr620Ter
NM_001289004.1:c.1674T>A	NP_001275933.1:p.Tyr558Ter
NM_001308014.1:c.1101T>A	NP_001294943.1:p.Tyr367Ter
NM_173488.4:c.1860T>A	NP_775759.3:p.Tyr620Ter
XM_005271874.2:c.1860T>A	XP_005271931.1:p.Tyr620Ter
XM_011543147.1:c.1755T>A	XP_011541449.1:p.Tyr585Ter
XM_011543148.1:c.1623T>A	XP_011541450.1:p.Tyr541Ter
XM_011543149.1:c.1287T>A	XP_011541451.1:p.Tyr429Ter
XM_011543150.1:c.1131T>A	XP_011541452.1:p.Tyr377Ter
XM_011543151.1:c.1101T>A	XP_011541453.1:p.Tyr367Ter
XM_011543153.1:c.1038T>A	XP_011541455.1:p.Tyr346Ter
XM_005271874.3:c.1860T>A	XP_005271931.1:p.Tyr620Ter
XM_011543147.2:c.1755T>A	XP_011541449.1:p.Tyr585Ter
XM_011543148.2:c.1623T>A	XP_011541450.1:p.Tyr541Ter
XM_011543153.2:c.1038T>A	XP_011541455.1:p.Tyr346Ter
NM_001289002.2:c.1860T>A	NP_001275931.1:p.Tyr620Ter
NM_001289004.2:c.1674T>A	NP_001275933.1:p.Tyr558Ter
NM_001308014.2:c.1101T>A	NP_001294943.1:p.Tyr367Ter
NM_173488.5:c.1860T>A MANE Select	NP_775759.3:p.Tyr620Ter