Canonical Allele Identifier: CA366330779

Gene: SLC22A1

Linked Data

• MyVariant Identifiers: chr6:g.160575898T>G (hg19) ; chr6:g.160154866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154866T>G , CM000668.2:g.160154866T>G	GRCh38
NC_000006.11:g.160575898T>G , CM000668.1:g.160575898T>G	GRCh37
NC_000006.10:g.160495888T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1454T>G MANE Select	ENSP00000355930.4:p.Phe485Cys
ENST00000324965.8:c.1386-1109T>G	ENSP00000318103.4:n.1386-1109T>G
ENST00000366963.8:c.1454T>G	ENSP00000355930.4:p.Phe485Cys
ENST00000457470.6:c.1386-3650T>G	ENSP00000409557.2:n.1386-3650T>G
ENST00000460902.2:c.1239T>G	ENSP00000439274.1:n.1239T>G
ENST00000539263.5:c.*927T>G	ENSP00000443245.1:n.*927T>G
NM_003057.2:c.1454T>G	NP_003048.1:p.Phe485Cys
NM_153187.1:c.1386-1109T>G	NP_694857.1:n.1386-1109T>G
XM_005267102.3:c.1454T>G	XP_005267159.1:p.Phe485Cys
XM_005267103.1:c.1454T>G	XP_005267160.1:p.Phe485Cys
XM_005267104.3:c.878T>G	XP_005267161.1:p.Phe293Cys
XM_005267105.3:c.878T>G	XP_005267162.1:p.Phe293Cys
XM_006715552.1:c.1386-3650T>G	XP_006715615.1:n.1386-3650T>G
XM_011536074.1:c.878T>G	XP_011534376.1:p.Phe293Cys
XM_005267102.5:c.1454T>G	XP_005267159.1:p.Phe485Cys
XM_005267103.2:c.1454T>G	XP_005267160.1:p.Phe485Cys
XM_005267104.5:c.878T>G	XP_005267161.1:p.Phe293Cys
XM_005267105.5:c.878T>G	XP_005267162.1:p.Phe293Cys
XM_006715552.2:c.1386-3650T>G	XP_006715615.1:n.1386-3650T>G
XM_011536074.3:c.878T>G	XP_011534376.1:p.Phe293Cys
NM_003057.3:c.1454T>G MANE Select	NP_003048.1:p.Phe485Cys
NM_153187.2:c.1386-1109T>G	NP_694857.1:n.1386-1109T>G