Canonical Allele Identifier: CA445859940
Gene: SLCO6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.101726743T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102391039T>C , CM000667.2:g.102391039T>C GRCh38
NC_000005.9:g.101726743T>C , CM000667.1:g.101726743T>C GRCh37
NC_000005.8:g.101754642T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1821A>G MANE Select ENSP00000421339.1:p.Val607=
ENST00000379807.7:c.1821A>G ENSP00000369135.3:p.Val607=
ENST00000389019.7:c.1635A>G ENSP00000373671.3:p.Val545=
ENST00000506729.5:c.1821A>G ENSP00000421339.1:p.Val607=
ENST00000513675.1:c.1062A>G ENSP00000421990.1:p.Val354=
ENST00000514765.6:n.191A>G
NM_001289002.1:c.1821A>G NP_001275931.1:p.Val607=
NM_001289004.1:c.1635A>G NP_001275933.1:p.Val545=
NM_001308014.1:c.1062A>G NP_001294943.1:p.Val354=
NM_173488.4:c.1821A>G NP_775759.3:p.Val607=
XM_005271874.2:c.1821A>G XP_005271931.1:p.Val607=
XM_011543147.1:c.1716A>G XP_011541449.1:p.Val572=
XM_011543148.1:c.1584A>G XP_011541450.1:p.Val528=
XM_011543149.1:c.1248A>G XP_011541451.1:p.Val416=
XM_011543150.1:c.1092A>G XP_011541452.1:p.Val364=
XM_011543151.1:c.1062A>G XP_011541453.1:p.Val354=
XM_011543153.1:c.999A>G XP_011541455.1:p.Val333=
XM_005271874.3:c.1821A>G XP_005271931.1:p.Val607=
XM_011543147.2:c.1716A>G XP_011541449.1:p.Val572=
XM_011543148.2:c.1584A>G XP_011541450.1:p.Val528=
XM_011543153.2:c.999A>G XP_011541455.1:p.Val333=
NM_001289002.2:c.1821A>G NP_001275931.1:p.Val607=
NM_001289004.2:c.1635A>G NP_001275933.1:p.Val545=
NM_001308014.2:c.1062A>G NP_001294943.1:p.Val354=
NM_173488.5:c.1821A>G MANE Select NP_775759.3:p.Val607=