Canonical Allele Identifier: CA360574013

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726734T>G (hg19) ; chr5:g.102391030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391030T>G , CM000667.2:g.102391030T>G	GRCh38
NC_000005.9:g.101726734T>G , CM000667.1:g.101726734T>G	GRCh37
NC_000005.8:g.101754633T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1830A>C MANE Select	ENSP00000421339.1:p.Lys610Asn
ENST00000379807.7:c.1830A>C	ENSP00000369135.3:p.Lys610Asn
ENST00000389019.7:c.1644A>C	ENSP00000373671.3:p.Lys548Asn
ENST00000506729.5:c.1830A>C	ENSP00000421339.1:p.Lys610Asn
ENST00000513675.1:c.1071A>C	ENSP00000421990.1:p.Lys357Asn
ENST00000514765.6:n.200A>C
NM_001289002.1:c.1830A>C	NP_001275931.1:p.Lys610Asn
NM_001289004.1:c.1644A>C	NP_001275933.1:p.Lys548Asn
NM_001308014.1:c.1071A>C	NP_001294943.1:p.Lys357Asn
NM_173488.4:c.1830A>C	NP_775759.3:p.Lys610Asn
XM_005271874.2:c.1830A>C	XP_005271931.1:p.Lys610Asn
XM_011543147.1:c.1725A>C	XP_011541449.1:p.Lys575Asn
XM_011543148.1:c.1593A>C	XP_011541450.1:p.Lys531Asn
XM_011543149.1:c.1257A>C	XP_011541451.1:p.Lys419Asn
XM_011543150.1:c.1101A>C	XP_011541452.1:p.Lys367Asn
XM_011543151.1:c.1071A>C	XP_011541453.1:p.Lys357Asn
XM_011543153.1:c.1008A>C	XP_011541455.1:p.Lys336Asn
XM_005271874.3:c.1830A>C	XP_005271931.1:p.Lys610Asn
XM_011543147.2:c.1725A>C	XP_011541449.1:p.Lys575Asn
XM_011543148.2:c.1593A>C	XP_011541450.1:p.Lys531Asn
XM_011543153.2:c.1008A>C	XP_011541455.1:p.Lys336Asn
NM_001289002.2:c.1830A>C	NP_001275931.1:p.Lys610Asn
NM_001289004.2:c.1644A>C	NP_001275933.1:p.Lys548Asn
NM_001308014.2:c.1071A>C	NP_001294943.1:p.Lys357Asn
NM_173488.5:c.1830A>C MANE Select	NP_775759.3:p.Lys610Asn