Canonical Allele Identifier: CA453006071
Gene: SLC22A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.160560754G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139722G>T , CM000668.2:g.160139722G>T GRCh38
NC_000006.11:g.160560754G>T , CM000668.1:g.160560754G>T GRCh37
NC_000006.10:g.160480744G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366963.9:c.1131G>T MANE Select ENSP00000355930.4:p.Leu377=
ENST00000324965.8:c.1131G>T ENSP00000318103.4:p.Leu377=
ENST00000366963.8:c.1131G>T ENSP00000355930.4:p.Leu377=
ENST00000457470.6:c.1131G>T ENSP00000409557.2:p.Leu377=
ENST00000460902.2:c.1061+3072G>T ENSP00000439274.1:n.1061+3072G>T
ENST00000539263.5:c.*604G>T ENSP00000443245.1:n.*604G>T
NM_003057.2:c.1131G>T NP_003048.1:p.Leu377=
NM_153187.1:c.1131G>T NP_694857.1:p.Leu377=
XM_005267102.3:c.1131G>T XP_005267159.1:p.Leu377=
XM_005267103.1:c.1131G>T XP_005267160.1:p.Leu377=
XM_005267104.3:c.555G>T XP_005267161.1:p.Leu185=
XM_005267105.3:c.555G>T XP_005267162.1:p.Leu185=
XM_006715552.1:c.1131G>T XP_006715615.1:p.Leu377=
XM_011536074.1:c.555G>T XP_011534376.1:p.Leu185=
XM_005267102.5:c.1131G>T XP_005267159.1:p.Leu377=
XM_005267103.2:c.1131G>T XP_005267160.1:p.Leu377=
XM_005267104.5:c.555G>T XP_005267161.1:p.Leu185=
XM_005267105.5:c.555G>T XP_005267162.1:p.Leu185=
XM_006715552.2:c.1131G>T XP_006715615.1:p.Leu377=
XM_011536074.3:c.555G>T XP_011534376.1:p.Leu185=
NM_003057.3:c.1131G>T MANE Select NP_003048.1:p.Leu377=
NM_153187.2:c.1131G>T NP_694857.1:p.Leu377=