Canonical Allele Identifier: CA2580593883
Community Standard Title: NM_003057.3(SLC22A1):c.1599-688T>A
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160157828T>A , CM000668.2:g.160157828T>A GRCh38
NC_000006.11:g.160578860T>A , CM000668.1:g.160578860T>A GRCh37
NC_000006.10:g.160498850T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003057.3:c.1599-688T>A MANE Select NP_003048.1:n.1599-688T>A
ENST00000366963.9:c.1599-688T>A MANE Select ENSP00000355930.4:n.1599-688T>A
NM_003057.2:c.1599-688T>A NP_003048.1:n.1599-688T>A
NM_153187.1:c.1486-688T>A NP_694857.1:n.1486-688T>A
NM_153187.2:c.1486-688T>A NP_694857.1:n.1486-688T>A
ENST00000324965.8:c.1486-688T>A ENSP00000318103.4:n.1486-688T>A
ENST00000366963.8:c.1599-688T>A ENSP00000355930.4:n.1599-688T>A
ENST00000457470.6:c.1386-688T>A ENSP00000409557.2:n.1386-688T>A
ENST00000460902.2:c.1284-688T>A ENSP00000439274.1:n.1284-688T>A
ENST00000478607.1:n.122-688T>A
ENST00000539263.5:c.*1072-688T>A ENSP00000443245.1:n.*1072-688T>A
XM_005267102.3:c.1499-688T>A XP_005267159.1:n.1499-688T>A
XM_005267102.5:c.1499-688T>A XP_005267159.1:n.1499-688T>A
XM_005267103.1:c.1687-688T>A XP_005267160.1:n.1687-688T>A
XM_005267103.2:c.1687-688T>A XP_005267160.1:n.1687-688T>A
XM_005267104.3:c.923-688T>A XP_005267161.1:n.923-688T>A
XM_005267104.5:c.923-688T>A XP_005267161.1:n.923-688T>A
XM_005267105.3:c.923-688T>A XP_005267162.1:n.923-688T>A
XM_005267105.5:c.923-688T>A XP_005267162.1:n.923-688T>A
XM_006715552.1:c.1386-688T>A XP_006715615.1:n.1386-688T>A
XM_006715552.2:c.1386-688T>A XP_006715615.1:n.1386-688T>A
XM_011536074.1:c.923-688T>A XP_011534376.1:n.923-688T>A
XM_011536074.3:c.923-688T>A XP_011534376.1:n.923-688T>A