Canonical Allele Identifier: CA445859932
Gene: SLCO6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.101726731C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102391027C>G , CM000667.2:g.102391027C>G GRCh38
NC_000005.9:g.101726731C>G , CM000667.1:g.101726731C>G GRCh37
NC_000005.8:g.101754630C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1833G>C MANE Select ENSP00000421339.1:p.Leu611=
ENST00000379807.7:c.1833G>C ENSP00000369135.3:p.Leu611=
ENST00000389019.7:c.1647G>C ENSP00000373671.3:p.Leu549=
ENST00000506729.5:c.1833G>C ENSP00000421339.1:p.Leu611=
ENST00000513675.1:c.1074G>C ENSP00000421990.1:p.Leu358=
ENST00000514765.6:n.203G>C
NM_001289002.1:c.1833G>C NP_001275931.1:p.Leu611=
NM_001289004.1:c.1647G>C NP_001275933.1:p.Leu549=
NM_001308014.1:c.1074G>C NP_001294943.1:p.Leu358=
NM_173488.4:c.1833G>C NP_775759.3:p.Leu611=
XM_005271874.2:c.1833G>C XP_005271931.1:p.Leu611=
XM_011543147.1:c.1728G>C XP_011541449.1:p.Leu576=
XM_011543148.1:c.1596G>C XP_011541450.1:p.Leu532=
XM_011543149.1:c.1260G>C XP_011541451.1:p.Leu420=
XM_011543150.1:c.1104G>C XP_011541452.1:p.Leu368=
XM_011543151.1:c.1074G>C XP_011541453.1:p.Leu358=
XM_011543153.1:c.1011G>C XP_011541455.1:p.Leu337=
XM_005271874.3:c.1833G>C XP_005271931.1:p.Leu611=
XM_011543147.2:c.1728G>C XP_011541449.1:p.Leu576=
XM_011543148.2:c.1596G>C XP_011541450.1:p.Leu532=
XM_011543153.2:c.1011G>C XP_011541455.1:p.Leu337=
NM_001289002.2:c.1833G>C NP_001275931.1:p.Leu611=
NM_001289004.2:c.1647G>C NP_001275933.1:p.Leu549=
NM_001308014.2:c.1074G>C NP_001294943.1:p.Leu358=
NM_173488.5:c.1833G>C MANE Select NP_775759.3:p.Leu611=