Canonical Allele Identifier: CA445859917
Gene: SLCO6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.101726718A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102391014A>G , CM000667.2:g.102391014A>G GRCh38
NC_000005.9:g.101726718A>G , CM000667.1:g.101726718A>G GRCh37
NC_000005.8:g.101754617A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1846T>C MANE Select ENSP00000421339.1:p.Leu616=
ENST00000379807.7:c.1846T>C ENSP00000369135.3:p.Leu616=
ENST00000389019.7:c.1660T>C ENSP00000373671.3:p.Leu554=
ENST00000506729.5:c.1846T>C ENSP00000421339.1:p.Leu616=
ENST00000513675.1:c.1087T>C ENSP00000421990.1:p.Leu363=
ENST00000514765.6:n.216T>C
NM_001289002.1:c.1846T>C NP_001275931.1:p.Leu616=
NM_001289004.1:c.1660T>C NP_001275933.1:p.Leu554=
NM_001308014.1:c.1087T>C NP_001294943.1:p.Leu363=
NM_173488.4:c.1846T>C NP_775759.3:p.Leu616=
XM_005271874.2:c.1846T>C XP_005271931.1:p.Leu616=
XM_011543147.1:c.1741T>C XP_011541449.1:p.Leu581=
XM_011543148.1:c.1609T>C XP_011541450.1:p.Leu537=
XM_011543149.1:c.1273T>C XP_011541451.1:p.Leu425=
XM_011543150.1:c.1117T>C XP_011541452.1:p.Leu373=
XM_011543151.1:c.1087T>C XP_011541453.1:p.Leu363=
XM_011543153.1:c.1024T>C XP_011541455.1:p.Leu342=
XM_005271874.3:c.1846T>C XP_005271931.1:p.Leu616=
XM_011543147.2:c.1741T>C XP_011541449.1:p.Leu581=
XM_011543148.2:c.1609T>C XP_011541450.1:p.Leu537=
XM_011543153.2:c.1024T>C XP_011541455.1:p.Leu342=
NM_001289002.2:c.1846T>C NP_001275931.1:p.Leu616=
NM_001289004.2:c.1660T>C NP_001275933.1:p.Leu554=
NM_001308014.2:c.1087T>C NP_001294943.1:p.Leu363=
NM_173488.5:c.1846T>C MANE Select NP_775759.3:p.Leu616=