Canonical Allele Identifier: CA445859923
Gene: SLCO6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.101726722C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102391018C>G , CM000667.2:g.102391018C>G GRCh38
NC_000005.9:g.101726722C>G , CM000667.1:g.101726722C>G GRCh37
NC_000005.8:g.101754621C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1842G>C MANE Select ENSP00000421339.1:p.Leu614=
ENST00000379807.7:c.1842G>C ENSP00000369135.3:p.Leu614=
ENST00000389019.7:c.1656G>C ENSP00000373671.3:p.Leu552=
ENST00000506729.5:c.1842G>C ENSP00000421339.1:p.Leu614=
ENST00000513675.1:c.1083G>C ENSP00000421990.1:p.Leu361=
ENST00000514765.6:n.212G>C
NM_001289002.1:c.1842G>C NP_001275931.1:p.Leu614=
NM_001289004.1:c.1656G>C NP_001275933.1:p.Leu552=
NM_001308014.1:c.1083G>C NP_001294943.1:p.Leu361=
NM_173488.4:c.1842G>C NP_775759.3:p.Leu614=
XM_005271874.2:c.1842G>C XP_005271931.1:p.Leu614=
XM_011543147.1:c.1737G>C XP_011541449.1:p.Leu579=
XM_011543148.1:c.1605G>C XP_011541450.1:p.Leu535=
XM_011543149.1:c.1269G>C XP_011541451.1:p.Leu423=
XM_011543150.1:c.1113G>C XP_011541452.1:p.Leu371=
XM_011543151.1:c.1083G>C XP_011541453.1:p.Leu361=
XM_011543153.1:c.1020G>C XP_011541455.1:p.Leu340=
XM_005271874.3:c.1842G>C XP_005271931.1:p.Leu614=
XM_011543147.2:c.1737G>C XP_011541449.1:p.Leu579=
XM_011543148.2:c.1605G>C XP_011541450.1:p.Leu535=
XM_011543153.2:c.1020G>C XP_011541455.1:p.Leu340=
NM_001289002.2:c.1842G>C NP_001275931.1:p.Leu614=
NM_001289004.2:c.1656G>C NP_001275933.1:p.Leu552=
NM_001308014.2:c.1083G>C NP_001294943.1:p.Leu361=
NM_173488.5:c.1842G>C MANE Select NP_775759.3:p.Leu614=