Canonical Allele Identifier: CA3357917

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs752017170
• ExAC: 5:101726647 AC / A
• gnomAD v2: 5-101726647-AC-A
• gnomAD v3: 5-102390943-AC-A
• gnomAD v4: 5-102390943-AC-A
• MyVariant Identifiers: chr5:g.101726648del (hg19) ; chr5:g.102390944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390944del , CM000667.2:g.102390944del	GRCh38
NC_000005.9:g.101726648del , CM000667.1:g.101726648del	GRCh37
NC_000005.8:g.101754547del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1879+37del MANE Select	ENSP00000421339.1:n.1879+37del
ENST00000379807.7:c.1879+37del	ENSP00000369135.3:n.1879+37del
ENST00000389019.7:c.1693+37del	ENSP00000373671.3:n.1693+37del
ENST00000506729.5:c.1879+37del	ENSP00000421339.1:n.1879+37del
ENST00000513675.1:c.1120+37del	ENSP00000421990.1:n.1120+37del
ENST00000514765.6:n.249+37del
NM_001289002.1:c.1879+37del	NP_001275931.1:n.1879+37del
NM_001289004.1:c.1693+37del	NP_001275933.1:n.1693+37del
NM_001308014.1:c.1120+37del	NP_001294943.1:n.1120+37del
NM_173488.4:c.1879+37del	NP_775759.3:n.1879+37del
XM_005271874.2:c.1879+37del	XP_005271931.1:n.1879+37del
XM_011543147.1:c.1774+37del	XP_011541449.1:n.1774+37del
XM_011543148.1:c.1642+37del	XP_011541450.1:n.1642+37del
XM_011543149.1:c.1306+37del	XP_011541451.1:n.1306+37del
XM_011543150.1:c.1150+37del	XP_011541452.1:n.1150+37del
XM_011543151.1:c.1120+37del	XP_011541453.1:n.1120+37del
XM_011543153.1:c.1057+37del	XP_011541455.1:n.1057+37del
XM_005271874.3:c.1879+37del	XP_005271931.1:n.1879+37del
XM_011543147.2:c.1774+37del	XP_011541449.1:n.1774+37del
XM_011543148.2:c.1642+37del	XP_011541450.1:n.1642+37del
XM_011543153.2:c.1057+37del	XP_011541455.1:n.1057+37del
NM_001289002.2:c.1879+37del	NP_001275931.1:n.1879+37del
NM_001289004.2:c.1693+37del	NP_001275933.1:n.1693+37del
NM_001308014.2:c.1120+37del	NP_001294943.1:n.1120+37del
NM_173488.5:c.1879+37del MANE Select	NP_775759.3:n.1879+37del