Canonical Allele Identifier: CA360574040

Gene: SLCO6A1

Linked Data

• gnomAD v4: 5-102391035-C-G
• COSMIC: COSM6469786
• MyVariant Identifiers: chr5:g.101726739C>G (hg19) ; chr5:g.102391035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391035C>G , CM000667.2:g.102391035C>G	GRCh38
NC_000005.9:g.101726739C>G , CM000667.1:g.101726739C>G	GRCh37
NC_000005.8:g.101754638C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1825G>C MANE Select	ENSP00000421339.1:p.Asp609His
ENST00000379807.7:c.1825G>C	ENSP00000369135.3:p.Asp609His
ENST00000389019.7:c.1639G>C	ENSP00000373671.3:p.Asp547His
ENST00000506729.5:c.1825G>C	ENSP00000421339.1:p.Asp609His
ENST00000513675.1:c.1066G>C	ENSP00000421990.1:p.Asp356His
ENST00000514765.6:n.195G>C
NM_001289002.1:c.1825G>C	NP_001275931.1:p.Asp609His
NM_001289004.1:c.1639G>C	NP_001275933.1:p.Asp547His
NM_001308014.1:c.1066G>C	NP_001294943.1:p.Asp356His
NM_173488.4:c.1825G>C	NP_775759.3:p.Asp609His
XM_005271874.2:c.1825G>C	XP_005271931.1:p.Asp609His
XM_011543147.1:c.1720G>C	XP_011541449.1:p.Asp574His
XM_011543148.1:c.1588G>C	XP_011541450.1:p.Asp530His
XM_011543149.1:c.1252G>C	XP_011541451.1:p.Asp418His
XM_011543150.1:c.1096G>C	XP_011541452.1:p.Asp366His
XM_011543151.1:c.1066G>C	XP_011541453.1:p.Asp356His
XM_011543153.1:c.1003G>C	XP_011541455.1:p.Asp335His
XM_005271874.3:c.1825G>C	XP_005271931.1:p.Asp609His
XM_011543147.2:c.1720G>C	XP_011541449.1:p.Asp574His
XM_011543148.2:c.1588G>C	XP_011541450.1:p.Asp530His
XM_011543153.2:c.1003G>C	XP_011541455.1:p.Asp335His
NM_001289002.2:c.1825G>C	NP_001275931.1:p.Asp609His
NM_001289004.2:c.1639G>C	NP_001275933.1:p.Asp547His
NM_001308014.2:c.1066G>C	NP_001294943.1:p.Asp356His
NM_173488.5:c.1825G>C MANE Select	NP_775759.3:p.Asp609His