Canonical Allele Identifier: CA917903477

Gene: SLC22A1

Linked Data

• dbSNP Id: rs869132369

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139852_160139853dup , CM000668.2:g.160139852_160139853dup	GRCh38
NC_000006.11:g.160560884_160560885dup , CM000668.1:g.160560884_160560885dup	GRCh37
NC_000006.10:g.160480874_160480875dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1261_1262dup MANE Select	ENSP00000355930.4:p.Ile423LeufsTer9
ENST00000324965.8:c.1261_1262dup	ENSP00000318103.4:p.Ile423LeufsTer9
ENST00000366963.8:c.1261_1262dup	ENSP00000355930.4:p.Ile423LeufsTer9
ENST00000457470.6:c.1261_1262dup	ENSP00000409557.2:p.Ile423LeufsTer9
ENST00000460902.2:c.1061+3202_1061+3203dup	ENSP00000439274.1:n.1061+3202_1061+3203dup
ENST00000539263.5:c.*734_*735dup	ENSP00000443245.1:n.*734_*735dup
NM_003057.2:c.1261_1262dup	NP_003048.1:p.Ile423LeufsTer9
NM_153187.1:c.1261_1262dup	NP_694857.1:p.Ile423LeufsTer9
XM_005267102.3:c.1261_1262dup	XP_005267159.1:p.Ile423LeufsTer9
XM_005267103.1:c.1261_1262dup	XP_005267160.1:p.Ile423LeufsTer9
XM_005267104.3:c.685_686dup	XP_005267161.1:p.Ile231LeufsTer9
XM_005267105.3:c.685_686dup	XP_005267162.1:p.Ile231LeufsTer9
XM_006715552.1:c.1261_1262dup	XP_006715615.1:p.Ile423LeufsTer9
XM_011536074.1:c.685_686dup	XP_011534376.1:p.Ile231LeufsTer9
XM_005267102.5:c.1261_1262dup	XP_005267159.1:p.Ile423LeufsTer9
XM_005267103.2:c.1261_1262dup	XP_005267160.1:p.Ile423LeufsTer9
XM_005267104.5:c.685_686dup	XP_005267161.1:p.Ile231LeufsTer9
XM_005267105.5:c.685_686dup	XP_005267162.1:p.Ile231LeufsTer9
XM_006715552.2:c.1261_1262dup	XP_006715615.1:p.Ile423LeufsTer9
XM_011536074.3:c.685_686dup	XP_011534376.1:p.Ile231LeufsTer9
NM_003057.3:c.1261_1262dup MANE Select	NP_003048.1:p.Ile423LeufsTer9
NM_153187.2:c.1261_1262dup	NP_694857.1:p.Ile423LeufsTer9