Canonical Allele Identifier: CA453013253
Gene: SLC22A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.160575842G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160154810G>C , CM000668.2:g.160154810G>C GRCh38
NC_000006.11:g.160575842G>C , CM000668.1:g.160575842G>C GRCh37
NC_000006.10:g.160495832G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366963.9:c.1398G>C MANE Select ENSP00000355930.4:p.Val466=
ENST00000324965.8:c.1386-1165G>C ENSP00000318103.4:n.1386-1165G>C
ENST00000366963.8:c.1398G>C ENSP00000355930.4:p.Val466=
ENST00000457470.6:c.1386-3706G>C ENSP00000409557.2:n.1386-3706G>C
ENST00000460902.2:c.1183G>C ENSP00000439274.1:n.1183G>C
ENST00000539263.5:c.*871G>C ENSP00000443245.1:n.*871G>C
NM_003057.2:c.1398G>C NP_003048.1:p.Val466=
NM_153187.1:c.1386-1165G>C NP_694857.1:n.1386-1165G>C
XM_005267102.3:c.1398G>C XP_005267159.1:p.Val466=
XM_005267103.1:c.1398G>C XP_005267160.1:p.Val466=
XM_005267104.3:c.822G>C XP_005267161.1:p.Val274=
XM_005267105.3:c.822G>C XP_005267162.1:p.Val274=
XM_006715552.1:c.1386-3706G>C XP_006715615.1:n.1386-3706G>C
XM_011536074.1:c.822G>C XP_011534376.1:p.Val274=
XM_005267102.5:c.1398G>C XP_005267159.1:p.Val466=
XM_005267103.2:c.1398G>C XP_005267160.1:p.Val466=
XM_005267104.5:c.822G>C XP_005267161.1:p.Val274=
XM_005267105.5:c.822G>C XP_005267162.1:p.Val274=
XM_006715552.2:c.1386-3706G>C XP_006715615.1:n.1386-3706G>C
XM_011536074.3:c.822G>C XP_011534376.1:p.Val274=
NM_003057.3:c.1398G>C MANE Select NP_003048.1:p.Val466=
NM_153187.2:c.1386-1165G>C NP_694857.1:n.1386-1165G>C