Canonical Allele Identifier: CA4083756

Gene: SLC22A1

Linked Data

• dbSNP Id: rs768993291
• ExAC: 6:160553322 C / A
• gnomAD v2: 6-160553322-C-A
• gnomAD v4: 6-160132290-C-A
• MyVariant Identifiers: chr6:g.160553322C>A (hg19) ; chr6:g.160132290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160132290C>A , CM000668.2:g.160132290C>A	GRCh38
NC_000006.11:g.160553322C>A , CM000668.1:g.160553322C>A	GRCh37
NC_000006.10:g.160473312C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.574C>A MANE Select	ENSP00000355930.4:p.Leu192Ile
ENST00000324965.8:c.574C>A	ENSP00000318103.4:p.Leu192Ile
ENST00000366963.8:c.574C>A	ENSP00000355930.4:p.Leu192Ile
ENST00000457470.6:c.574C>A	ENSP00000409557.2:p.Leu192Ile
ENST00000460902.2:c.574C>A	ENSP00000439274.1:p.Leu192Ile
ENST00000539263.5:c.*47C>A	ENSP00000443245.1:n.*47C>A
ENST00000540443.1:c.-3C>A	ENSP00000440105.1:n.-3C>A
NM_003057.2:c.574C>A	NP_003048.1:p.Leu192Ile
NM_153187.1:c.574C>A	NP_694857.1:p.Leu192Ile
XM_005267102.3:c.574C>A	XP_005267159.1:p.Leu192Ile
XM_005267103.1:c.574C>A	XP_005267160.1:p.Leu192Ile
XM_005267104.3:c.-3C>A	XP_005267161.1:n.-3C>A
XM_005267105.3:c.-3C>A	XP_005267162.1:n.-3C>A
XM_006715552.1:c.574C>A	XP_006715615.1:p.Leu192Ile
XM_011536074.1:c.-3C>A	XP_011534376.1:n.-3C>A
XM_005267102.5:c.574C>A	XP_005267159.1:p.Leu192Ile
XM_005267103.2:c.574C>A	XP_005267160.1:p.Leu192Ile
XM_005267104.5:c.-3C>A	XP_005267161.1:n.-3C>A
XM_005267105.5:c.-3C>A	XP_005267162.1:n.-3C>A
XM_006715552.2:c.574C>A	XP_006715615.1:p.Leu192Ile
XM_011536074.3:c.-3C>A	XP_011534376.1:n.-3C>A
NM_003057.3:c.574C>A MANE Select	NP_003048.1:p.Leu192Ile
NM_153187.2:c.574C>A	NP_694857.1:p.Leu192Ile