Canonical Allele Identifier: CA4083970

Gene: SLC22A1

Linked Data

• ClinVar Variation Id: 3163313
• ClinVar RCV Id: RCV004448696
• dbSNP Id: rs763656391
• ExAC: 6:160560696 C / G
• gnomAD v2: 6-160560696-C-G
• gnomAD v3: 6-160139664-C-G
• gnomAD v4: 6-160139664-C-G
• MyVariant Identifiers: chr6:g.160560696C>G (hg19) ; chr6:g.160560696_160560698delinsGTG (hg19) ; chr6:g.160139664C>G (hg38) ; chr6:g.160139664_160139666delinsGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139664C>G , CM000668.2:g.160139664C>G	GRCh38
NC_000006.11:g.160560696C>G , CM000668.1:g.160560696C>G	GRCh37
NC_000006.10:g.160480686C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1073C>G MANE Select	ENSP00000355930.4:p.Ser358Cys
ENST00000324965.8:c.1073C>G	ENSP00000318103.4:p.Ser358Cys
ENST00000366963.8:c.1073C>G	ENSP00000355930.4:p.Ser358Cys
ENST00000457470.6:c.1073C>G	ENSP00000409557.2:p.Ser358Cys
ENST00000460902.2:c.1061+3014C>G	ENSP00000439274.1:n.1061+3014C>G
ENST00000539263.5:c.*546C>G	ENSP00000443245.1:n.*546C>G
NM_003057.2:c.1073C>G	NP_003048.1:p.Ser358Cys
NM_153187.1:c.1073C>G	NP_694857.1:p.Ser358Cys
XM_005267102.3:c.1073C>G	XP_005267159.1:p.Ser358Cys
XM_005267103.1:c.1073C>G	XP_005267160.1:p.Ser358Cys
XM_005267104.3:c.497C>G	XP_005267161.1:p.Ser166Cys
XM_005267105.3:c.497C>G	XP_005267162.1:p.Ser166Cys
XM_006715552.1:c.1073C>G	XP_006715615.1:p.Ser358Cys
XM_011536074.1:c.497C>G	XP_011534376.1:p.Ser166Cys
XM_005267102.5:c.1073C>G	XP_005267159.1:p.Ser358Cys
XM_005267103.2:c.1073C>G	XP_005267160.1:p.Ser358Cys
XM_005267104.5:c.497C>G	XP_005267161.1:p.Ser166Cys
XM_005267105.5:c.497C>G	XP_005267162.1:p.Ser166Cys
XM_006715552.2:c.1073C>G	XP_006715615.1:p.Ser358Cys
XM_011536074.3:c.497C>G	XP_011534376.1:p.Ser166Cys
NM_003057.3:c.1073C>G MANE Select	NP_003048.1:p.Ser358Cys
NM_153187.2:c.1073C>G	NP_694857.1:p.Ser358Cys