Canonical Allele Identifier: CA360573802

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726687A>G (hg19) ; chr5:g.102390983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390983A>G , CM000667.2:g.102390983A>G	GRCh38
NC_000005.9:g.101726687A>G , CM000667.1:g.101726687A>G	GRCh37
NC_000005.8:g.101754586A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1877T>C MANE Select	ENSP00000421339.1:p.Phe626Ser
ENST00000379807.7:c.1877T>C	ENSP00000369135.3:p.Phe626Ser
ENST00000389019.7:c.1691T>C	ENSP00000373671.3:p.Phe564Ser
ENST00000506729.5:c.1877T>C	ENSP00000421339.1:p.Phe626Ser
ENST00000513675.1:c.1118T>C	ENSP00000421990.1:p.Phe373Ser
ENST00000514765.6:n.247T>C
NM_001289002.1:c.1877T>C	NP_001275931.1:p.Phe626Ser
NM_001289004.1:c.1691T>C	NP_001275933.1:p.Phe564Ser
NM_001308014.1:c.1118T>C	NP_001294943.1:p.Phe373Ser
NM_173488.4:c.1877T>C	NP_775759.3:p.Phe626Ser
XM_005271874.2:c.1877T>C	XP_005271931.1:p.Phe626Ser
XM_011543147.1:c.1772T>C	XP_011541449.1:p.Phe591Ser
XM_011543148.1:c.1640T>C	XP_011541450.1:p.Phe547Ser
XM_011543149.1:c.1304T>C	XP_011541451.1:p.Phe435Ser
XM_011543150.1:c.1148T>C	XP_011541452.1:p.Phe383Ser
XM_011543151.1:c.1118T>C	XP_011541453.1:p.Phe373Ser
XM_011543153.1:c.1055T>C	XP_011541455.1:p.Phe352Ser
XM_005271874.3:c.1877T>C	XP_005271931.1:p.Phe626Ser
XM_011543147.2:c.1772T>C	XP_011541449.1:p.Phe591Ser
XM_011543148.2:c.1640T>C	XP_011541450.1:p.Phe547Ser
XM_011543153.2:c.1055T>C	XP_011541455.1:p.Phe352Ser
NM_001289002.2:c.1877T>C	NP_001275931.1:p.Phe626Ser
NM_001289004.2:c.1691T>C	NP_001275933.1:p.Phe564Ser
NM_001308014.2:c.1118T>C	NP_001294943.1:p.Phe373Ser
NM_173488.5:c.1877T>C MANE Select	NP_775759.3:p.Phe626Ser