Canonical Allele Identifier: CA360573900

Gene: SLCO6A1

Linked Data

• gnomAD v4: 5-102391004-C-A
• MyVariant Identifiers: chr5:g.101726708C>A (hg19) ; chr5:g.102391004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391004C>A , CM000667.2:g.102391004C>A	GRCh38
NC_000005.9:g.101726708C>A , CM000667.1:g.101726708C>A	GRCh37
NC_000005.8:g.101754607C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1856G>T MANE Select	ENSP00000421339.1:p.Ser619Ile
ENST00000379807.7:c.1856G>T	ENSP00000369135.3:p.Ser619Ile
ENST00000389019.7:c.1670G>T	ENSP00000373671.3:p.Ser557Ile
ENST00000506729.5:c.1856G>T	ENSP00000421339.1:p.Ser619Ile
ENST00000513675.1:c.1097G>T	ENSP00000421990.1:p.Ser366Ile
ENST00000514765.6:n.226G>T
NM_001289002.1:c.1856G>T	NP_001275931.1:p.Ser619Ile
NM_001289004.1:c.1670G>T	NP_001275933.1:p.Ser557Ile
NM_001308014.1:c.1097G>T	NP_001294943.1:p.Ser366Ile
NM_173488.4:c.1856G>T	NP_775759.3:p.Ser619Ile
XM_005271874.2:c.1856G>T	XP_005271931.1:p.Ser619Ile
XM_011543147.1:c.1751G>T	XP_011541449.1:p.Ser584Ile
XM_011543148.1:c.1619G>T	XP_011541450.1:p.Ser540Ile
XM_011543149.1:c.1283G>T	XP_011541451.1:p.Ser428Ile
XM_011543150.1:c.1127G>T	XP_011541452.1:p.Ser376Ile
XM_011543151.1:c.1097G>T	XP_011541453.1:p.Ser366Ile
XM_011543153.1:c.1034G>T	XP_011541455.1:p.Ser345Ile
XM_005271874.3:c.1856G>T	XP_005271931.1:p.Ser619Ile
XM_011543147.2:c.1751G>T	XP_011541449.1:p.Ser584Ile
XM_011543148.2:c.1619G>T	XP_011541450.1:p.Ser540Ile
XM_011543153.2:c.1034G>T	XP_011541455.1:p.Ser345Ile
NM_001289002.2:c.1856G>T	NP_001275931.1:p.Ser619Ile
NM_001289004.2:c.1670G>T	NP_001275933.1:p.Ser557Ile
NM_001308014.2:c.1097G>T	NP_001294943.1:p.Ser366Ile
NM_173488.5:c.1856G>T MANE Select	NP_775759.3:p.Ser619Ile