Canonical Allele Identifier: CA4083927

Gene: SLC22A1

Linked Data

• dbSNP Id: rs2282143
• ExAC: 6:160557643 C / G
• gnomAD v2: 6-160557643-C-G
• gnomAD v3: 6-160136611-C-G
• gnomAD v4: 6-160136611-C-G
• MyVariant Identifiers: chr6:g.160557643C>G (hg19) ; chr6:g.160136611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160136611C>G , CM000668.2:g.160136611C>G	GRCh38
NC_000006.11:g.160557643C>G , CM000668.1:g.160557643C>G	GRCh37
NC_000006.10:g.160477633C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1022C>G MANE Select	ENSP00000355930.4:p.Pro341Arg
ENST00000324965.8:c.1022C>G	ENSP00000318103.4:p.Pro341Arg
ENST00000366963.8:c.1022C>G	ENSP00000355930.4:p.Pro341Arg
ENST00000457470.6:c.1022C>G	ENSP00000409557.2:p.Pro341Arg
ENST00000460902.2:c.1022C>G	ENSP00000439274.1:p.Pro341Arg
ENST00000539263.5:c.*495C>G	ENSP00000443245.1:n.*495C>G
NM_003057.2:c.1022C>G	NP_003048.1:p.Pro341Arg
NM_153187.1:c.1022C>G	NP_694857.1:p.Pro341Arg
XM_005267102.3:c.1022C>G	XP_005267159.1:p.Pro341Arg
XM_005267103.1:c.1022C>G	XP_005267160.1:p.Pro341Arg
XM_005267104.3:c.446C>G	XP_005267161.1:p.Pro149Arg
XM_005267105.3:c.446C>G	XP_005267162.1:p.Pro149Arg
XM_006715552.1:c.1022C>G	XP_006715615.1:p.Pro341Arg
XM_011536074.1:c.446C>G	XP_011534376.1:p.Pro149Arg
XM_005267102.5:c.1022C>G	XP_005267159.1:p.Pro341Arg
XM_005267103.2:c.1022C>G	XP_005267160.1:p.Pro341Arg
XM_005267104.5:c.446C>G	XP_005267161.1:p.Pro149Arg
XM_005267105.5:c.446C>G	XP_005267162.1:p.Pro149Arg
XM_006715552.2:c.1022C>G	XP_006715615.1:p.Pro341Arg
XM_011536074.3:c.446C>G	XP_011534376.1:p.Pro149Arg
NM_003057.3:c.1022C>G MANE Select	NP_003048.1:p.Pro341Arg
NM_153187.2:c.1022C>G	NP_694857.1:p.Pro341Arg