Canonical Allele Identifier: CA360573934

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726716C>G (hg19) ; chr5:g.102391012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391012C>G , CM000667.2:g.102391012C>G	GRCh38
NC_000005.9:g.101726716C>G , CM000667.1:g.101726716C>G	GRCh37
NC_000005.8:g.101754615C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1848G>C MANE Select	ENSP00000421339.1:p.Leu616Phe
ENST00000379807.7:c.1848G>C	ENSP00000369135.3:p.Leu616Phe
ENST00000389019.7:c.1662G>C	ENSP00000373671.3:p.Leu554Phe
ENST00000506729.5:c.1848G>C	ENSP00000421339.1:p.Leu616Phe
ENST00000513675.1:c.1089G>C	ENSP00000421990.1:p.Leu363Phe
ENST00000514765.6:n.218G>C
NM_001289002.1:c.1848G>C	NP_001275931.1:p.Leu616Phe
NM_001289004.1:c.1662G>C	NP_001275933.1:p.Leu554Phe
NM_001308014.1:c.1089G>C	NP_001294943.1:p.Leu363Phe
NM_173488.4:c.1848G>C	NP_775759.3:p.Leu616Phe
XM_005271874.2:c.1848G>C	XP_005271931.1:p.Leu616Phe
XM_011543147.1:c.1743G>C	XP_011541449.1:p.Leu581Phe
XM_011543148.1:c.1611G>C	XP_011541450.1:p.Leu537Phe
XM_011543149.1:c.1275G>C	XP_011541451.1:p.Leu425Phe
XM_011543150.1:c.1119G>C	XP_011541452.1:p.Leu373Phe
XM_011543151.1:c.1089G>C	XP_011541453.1:p.Leu363Phe
XM_011543153.1:c.1026G>C	XP_011541455.1:p.Leu342Phe
XM_005271874.3:c.1848G>C	XP_005271931.1:p.Leu616Phe
XM_011543147.2:c.1743G>C	XP_011541449.1:p.Leu581Phe
XM_011543148.2:c.1611G>C	XP_011541450.1:p.Leu537Phe
XM_011543153.2:c.1026G>C	XP_011541455.1:p.Leu342Phe
NM_001289002.2:c.1848G>C	NP_001275931.1:p.Leu616Phe
NM_001289004.2:c.1662G>C	NP_001275933.1:p.Leu554Phe
NM_001308014.2:c.1089G>C	NP_001294943.1:p.Leu363Phe
NM_173488.5:c.1848G>C MANE Select	NP_775759.3:p.Leu616Phe