Canonical Allele Identifier: CA571527554

Gene: SLC22A1

Linked Data

• dbSNP Id: rs1336538188
• gnomAD v2: 6-160560615-G-GT
• gnomAD v3: 6-160139583-G-GT
• gnomAD v4: 6-160139583-G-GT
• MyVariant Identifiers: chr6:g.160560615_160560616insT (hg19) ; chr6:g.160139583_160139584insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139583_160139584insT , CM000668.2:g.160139583_160139584insT	GRCh38
NC_000006.11:g.160560615_160560616insT , CM000668.1:g.160560615_160560616insT	GRCh37
NC_000006.10:g.160480605_160480606insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1062-70_1062-69insT MANE Select	ENSP00000355930.4:n.1062-70_1062-69insT
ENST00000324965.8:c.1062-70_1062-69insT	ENSP00000318103.4:n.1062-70_1062-69insT
ENST00000366963.8:c.1062-70_1062-69insT	ENSP00000355930.4:n.1062-70_1062-69insT
ENST00000457470.6:c.1062-70_1062-69insT	ENSP00000409557.2:n.1062-70_1062-69insT
ENST00000460902.2:c.1061+2933_1061+2934insT	ENSP00000439274.1:n.1061+2933_1061+2934insT
ENST00000539263.5:c.*535-70_*535-69insT	ENSP00000443245.1:n.*535-70_*535-69insT
NM_003057.2:c.1062-70_1062-69insT	NP_003048.1:n.1062-70_1062-69insT
NM_153187.1:c.1062-70_1062-69insT	NP_694857.1:n.1062-70_1062-69insT
XM_005267102.3:c.1062-70_1062-69insT	XP_005267159.1:n.1062-70_1062-69insT
XM_005267103.1:c.1062-70_1062-69insT	XP_005267160.1:n.1062-70_1062-69insT
XM_005267104.3:c.486-70_486-69insT	XP_005267161.1:n.486-70_486-69insT
XM_005267105.3:c.486-70_486-69insT	XP_005267162.1:n.486-70_486-69insT
XM_006715552.1:c.1062-70_1062-69insT	XP_006715615.1:n.1062-70_1062-69insT
XM_011536074.1:c.486-70_486-69insT	XP_011534376.1:n.486-70_486-69insT
XM_005267102.5:c.1062-70_1062-69insT	XP_005267159.1:n.1062-70_1062-69insT
XM_005267103.2:c.1062-70_1062-69insT	XP_005267160.1:n.1062-70_1062-69insT
XM_005267104.5:c.486-70_486-69insT	XP_005267161.1:n.486-70_486-69insT
XM_005267105.5:c.486-70_486-69insT	XP_005267162.1:n.486-70_486-69insT
XM_006715552.2:c.1062-70_1062-69insT	XP_006715615.1:n.1062-70_1062-69insT
XM_011536074.3:c.486-70_486-69insT	XP_011534376.1:n.486-70_486-69insT
NM_003057.3:c.1062-70_1062-69insT MANE Select	NP_003048.1:n.1062-70_1062-69insT
NM_153187.2:c.1062-70_1062-69insT	NP_694857.1:n.1062-70_1062-69insT