Canonical Allele Identifier: CA360574042

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726741G>C (hg19) ; chr5:g.102391037G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391037G>C , CM000667.2:g.102391037G>C	GRCh38
NC_000005.9:g.101726741G>C , CM000667.1:g.101726741G>C	GRCh37
NC_000005.8:g.101754640G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1823C>G MANE Select	ENSP00000421339.1:p.Pro608Arg
ENST00000379807.7:c.1823C>G	ENSP00000369135.3:p.Pro608Arg
ENST00000389019.7:c.1637C>G	ENSP00000373671.3:p.Pro546Arg
ENST00000506729.5:c.1823C>G	ENSP00000421339.1:p.Pro608Arg
ENST00000513675.1:c.1064C>G	ENSP00000421990.1:p.Pro355Arg
ENST00000514765.6:n.193C>G
NM_001289002.1:c.1823C>G	NP_001275931.1:p.Pro608Arg
NM_001289004.1:c.1637C>G	NP_001275933.1:p.Pro546Arg
NM_001308014.1:c.1064C>G	NP_001294943.1:p.Pro355Arg
NM_173488.4:c.1823C>G	NP_775759.3:p.Pro608Arg
XM_005271874.2:c.1823C>G	XP_005271931.1:p.Pro608Arg
XM_011543147.1:c.1718C>G	XP_011541449.1:p.Pro573Arg
XM_011543148.1:c.1586C>G	XP_011541450.1:p.Pro529Arg
XM_011543149.1:c.1250C>G	XP_011541451.1:p.Pro417Arg
XM_011543150.1:c.1094C>G	XP_011541452.1:p.Pro365Arg
XM_011543151.1:c.1064C>G	XP_011541453.1:p.Pro355Arg
XM_011543153.1:c.1001C>G	XP_011541455.1:p.Pro334Arg
XM_005271874.3:c.1823C>G	XP_005271931.1:p.Pro608Arg
XM_011543147.2:c.1718C>G	XP_011541449.1:p.Pro573Arg
XM_011543148.2:c.1586C>G	XP_011541450.1:p.Pro529Arg
XM_011543153.2:c.1001C>G	XP_011541455.1:p.Pro334Arg
NM_001289002.2:c.1823C>G	NP_001275931.1:p.Pro608Arg
NM_001289004.2:c.1637C>G	NP_001275933.1:p.Pro546Arg
NM_001308014.2:c.1064C>G	NP_001294943.1:p.Pro355Arg
NM_173488.5:c.1823C>G MANE Select	NP_775759.3:p.Pro608Arg