Canonical Allele Identifier: CA366328793

Gene: SLC22A1

Linked Data

• dbSNP Id: rs1443443750
• gnomAD v4: 6-160139824-G-T
• MyVariant Identifiers: chr6:g.160560856G>T (hg19) ; chr6:g.160139824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139824G>T , CM000668.2:g.160139824G>T	GRCh38
NC_000006.11:g.160560856G>T , CM000668.1:g.160560856G>T	GRCh37
NC_000006.10:g.160480846G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1233G>T MANE Select	ENSP00000355930.4:p.Leu411Phe
ENST00000324965.8:c.1233G>T	ENSP00000318103.4:p.Leu411Phe
ENST00000366963.8:c.1233G>T	ENSP00000355930.4:p.Leu411Phe
ENST00000457470.6:c.1233G>T	ENSP00000409557.2:p.Leu411Phe
ENST00000460902.2:c.1061+3174G>T	ENSP00000439274.1:n.1061+3174G>T
ENST00000539263.5:c.*706G>T	ENSP00000443245.1:n.*706G>T
NM_003057.2:c.1233G>T	NP_003048.1:p.Leu411Phe
NM_153187.1:c.1233G>T	NP_694857.1:p.Leu411Phe
XM_005267102.3:c.1233G>T	XP_005267159.1:p.Leu411Phe
XM_005267103.1:c.1233G>T	XP_005267160.1:p.Leu411Phe
XM_005267104.3:c.657G>T	XP_005267161.1:p.Leu219Phe
XM_005267105.3:c.657G>T	XP_005267162.1:p.Leu219Phe
XM_006715552.1:c.1233G>T	XP_006715615.1:p.Leu411Phe
XM_011536074.1:c.657G>T	XP_011534376.1:p.Leu219Phe
XM_005267102.5:c.1233G>T	XP_005267159.1:p.Leu411Phe
XM_005267103.2:c.1233G>T	XP_005267160.1:p.Leu411Phe
XM_005267104.5:c.657G>T	XP_005267161.1:p.Leu219Phe
XM_005267105.5:c.657G>T	XP_005267162.1:p.Leu219Phe
XM_006715552.2:c.1233G>T	XP_006715615.1:p.Leu411Phe
XM_011536074.3:c.657G>T	XP_011534376.1:p.Leu219Phe
NM_003057.3:c.1233G>T MANE Select	NP_003048.1:p.Leu411Phe
NM_153187.2:c.1233G>T	NP_694857.1:p.Leu411Phe