Canonical Allele Identifier: CA360573868
Gene: SLCO6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102390998A>G , CM000667.2:g.102390998A>G GRCh38
NC_000005.9:g.101726702A>G , CM000667.1:g.101726702A>G GRCh37
NC_000005.8:g.101754601A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1862T>C MANE Select ENSP00000421339.1:p.Val621Ala
ENST00000379807.7:c.1862T>C ENSP00000369135.3:p.Val621Ala
ENST00000389019.7:c.1676T>C ENSP00000373671.3:p.Val559Ala
ENST00000506729.5:c.1862T>C ENSP00000421339.1:p.Val621Ala
ENST00000513675.1:c.1103T>C ENSP00000421990.1:p.Val368Ala
ENST00000514765.6:n.232T>C
NM_001289002.1:c.1862T>C NP_001275931.1:p.Val621Ala
NM_001289004.1:c.1676T>C NP_001275933.1:p.Val559Ala
NM_001308014.1:c.1103T>C NP_001294943.1:p.Val368Ala
NM_173488.4:c.1862T>C NP_775759.3:p.Val621Ala
XM_005271874.2:c.1862T>C XP_005271931.1:p.Val621Ala
XM_011543147.1:c.1757T>C XP_011541449.1:p.Val586Ala
XM_011543148.1:c.1625T>C XP_011541450.1:p.Val542Ala
XM_011543149.1:c.1289T>C XP_011541451.1:p.Val430Ala
XM_011543150.1:c.1133T>C XP_011541452.1:p.Val378Ala
XM_011543151.1:c.1103T>C XP_011541453.1:p.Val368Ala
XM_011543153.1:c.1040T>C XP_011541455.1:p.Val347Ala
XM_005271874.3:c.1862T>C XP_005271931.1:p.Val621Ala
XM_011543147.2:c.1757T>C XP_011541449.1:p.Val586Ala
XM_011543148.2:c.1625T>C XP_011541450.1:p.Val542Ala
XM_011543153.2:c.1040T>C XP_011541455.1:p.Val347Ala
NM_001289002.2:c.1862T>C NP_001275931.1:p.Val621Ala
NM_001289004.2:c.1676T>C NP_001275933.1:p.Val559Ala
NM_001308014.2:c.1103T>C NP_001294943.1:p.Val368Ala
NM_173488.5:c.1862T>C MANE Select NP_775759.3:p.Val621Ala