Canonical Allele Identifier: CA360573812

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs1394116435
• gnomAD v3: 5-102390985-T-C
• gnomAD v4: 5-102390985-T-C
• MyVariant Identifiers: chr5:g.101726689T>C (hg19) ; chr5:g.102390985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390985T>C , CM000667.2:g.102390985T>C	GRCh38
NC_000005.9:g.101726689T>C , CM000667.1:g.101726689T>C	GRCh37
NC_000005.8:g.101754588T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1875A>G MANE Select	ENSP00000421339.1:p.Ile625Met
ENST00000379807.7:c.1875A>G	ENSP00000369135.3:p.Ile625Met
ENST00000389019.7:c.1689A>G	ENSP00000373671.3:p.Ile563Met
ENST00000506729.5:c.1875A>G	ENSP00000421339.1:p.Ile625Met
ENST00000513675.1:c.1116A>G	ENSP00000421990.1:p.Ile372Met
ENST00000514765.6:n.245A>G
NM_001289002.1:c.1875A>G	NP_001275931.1:p.Ile625Met
NM_001289004.1:c.1689A>G	NP_001275933.1:p.Ile563Met
NM_001308014.1:c.1116A>G	NP_001294943.1:p.Ile372Met
NM_173488.4:c.1875A>G	NP_775759.3:p.Ile625Met
XM_005271874.2:c.1875A>G	XP_005271931.1:p.Ile625Met
XM_011543147.1:c.1770A>G	XP_011541449.1:p.Ile590Met
XM_011543148.1:c.1638A>G	XP_011541450.1:p.Ile546Met
XM_011543149.1:c.1302A>G	XP_011541451.1:p.Ile434Met
XM_011543150.1:c.1146A>G	XP_011541452.1:p.Ile382Met
XM_011543151.1:c.1116A>G	XP_011541453.1:p.Ile372Met
XM_011543153.1:c.1053A>G	XP_011541455.1:p.Ile351Met
XM_005271874.3:c.1875A>G	XP_005271931.1:p.Ile625Met
XM_011543147.2:c.1770A>G	XP_011541449.1:p.Ile590Met
XM_011543148.2:c.1638A>G	XP_011541450.1:p.Ile546Met
XM_011543153.2:c.1053A>G	XP_011541455.1:p.Ile351Met
NM_001289002.2:c.1875A>G	NP_001275931.1:p.Ile625Met
NM_001289004.2:c.1689A>G	NP_001275933.1:p.Ile563Met
NM_001308014.2:c.1116A>G	NP_001294943.1:p.Ile372Met
NM_173488.5:c.1875A>G MANE Select	NP_775759.3:p.Ile625Met