Canonical Allele Identifier: CA12073777
Gene: SLCO6A1 HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.102434022C>T , CM000667.2:g.102434022C>T GRCh38
NC_000005.9:g.101769726C>T , CM000667.1:g.101769726C>T GRCh37
NC_000005.8:g.101797625C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506729.6:c.1276+4595G>A MANE Select ENSP00000421339.1:n.1276+4595G>A
ENST00000379807.7:c.1276+4595G>A ENSP00000369135.3:n.1276+4595G>A
ENST00000389019.7:c.1090+4595G>A ENSP00000373671.3:n.1090+4595G>A
ENST00000506729.5:c.1276+4595G>A ENSP00000421339.1:n.1276+4595G>A
ENST00000513675.1:c.714-20879G>A ENSP00000421990.1:n.714-20879G>A
ENST00000514551.5:n.728+4595G>A
NM_001289002.1:c.1276+4595G>A NP_001275931.1:n.1276+4595G>A
NM_001289004.1:c.1090+4595G>A NP_001275933.1:n.1090+4595G>A
NM_001308014.1:c.714-20879G>A NP_001294943.1:n.714-20879G>A
NM_173488.4:c.1276+4595G>A NP_775759.3:n.1276+4595G>A
XM_005271874.2:c.1276+4595G>A XP_005271931.1:n.1276+4595G>A
XM_011543147.1:c.1171+4595G>A XP_011541449.1:n.1171+4595G>A
XM_011543148.1:c.1039+4595G>A XP_011541450.1:n.1039+4595G>A
XM_011543149.1:c.900-20879G>A XP_011541451.1:n.900-20879G>A
XM_011543150.1:c.547+4595G>A XP_011541452.1:n.547+4595G>A
XM_011543151.1:c.714-20879G>A XP_011541453.1:n.714-20879G>A
XM_011543153.1:c.454+4595G>A XP_011541455.1:n.454+4595G>A
XM_011543154.1:c.1132-14001G>A XP_011541456.1:n.1132-14001G>A
XM_005271874.3:c.1276+4595G>A XP_005271931.1:n.1276+4595G>A
XM_011543147.2:c.1171+4595G>A XP_011541449.1:n.1171+4595G>A
XM_011543148.2:c.1039+4595G>A XP_011541450.1:n.1039+4595G>A
XM_011543153.2:c.454+4595G>A XP_011541455.1:n.454+4595G>A
XM_011543154.3:c.1132-14001G>A XP_011541456.1:n.1132-14001G>A
NM_001289002.2:c.1276+4595G>A NP_001275931.1:n.1276+4595G>A
NM_001289004.2:c.1090+4595G>A NP_001275933.1:n.1090+4595G>A
NM_001308014.2:c.714-20879G>A NP_001294943.1:n.714-20879G>A
NM_173488.5:c.1276+4595G>A MANE Select NP_775759.3:n.1276+4595G>A