Canonical Allele Identifier: CA366325890

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160132290-C-T
• MyVariant Identifiers: chr6:g.160553322C>T (hg19) ; chr6:g.160132290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160132290C>T , CM000668.2:g.160132290C>T	GRCh38
NC_000006.11:g.160553322C>T , CM000668.1:g.160553322C>T	GRCh37
NC_000006.10:g.160473312C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.574C>T MANE Select	ENSP00000355930.4:p.Leu192Phe
ENST00000324965.8:c.574C>T	ENSP00000318103.4:p.Leu192Phe
ENST00000366963.8:c.574C>T	ENSP00000355930.4:p.Leu192Phe
ENST00000457470.6:c.574C>T	ENSP00000409557.2:p.Leu192Phe
ENST00000460902.2:c.574C>T	ENSP00000439274.1:p.Leu192Phe
ENST00000539263.5:c.*47C>T	ENSP00000443245.1:n.*47C>T
ENST00000540443.1:c.-3C>T	ENSP00000440105.1:n.-3C>T
NM_003057.2:c.574C>T	NP_003048.1:p.Leu192Phe
NM_153187.1:c.574C>T	NP_694857.1:p.Leu192Phe
XM_005267102.3:c.574C>T	XP_005267159.1:p.Leu192Phe
XM_005267103.1:c.574C>T	XP_005267160.1:p.Leu192Phe
XM_005267104.3:c.-3C>T	XP_005267161.1:n.-3C>T
XM_005267105.3:c.-3C>T	XP_005267162.1:n.-3C>T
XM_006715552.1:c.574C>T	XP_006715615.1:p.Leu192Phe
XM_011536074.1:c.-3C>T	XP_011534376.1:n.-3C>T
XM_005267102.5:c.574C>T	XP_005267159.1:p.Leu192Phe
XM_005267103.2:c.574C>T	XP_005267160.1:p.Leu192Phe
XM_005267104.5:c.-3C>T	XP_005267161.1:n.-3C>T
XM_005267105.5:c.-3C>T	XP_005267162.1:n.-3C>T
XM_006715552.2:c.574C>T	XP_006715615.1:p.Leu192Phe
XM_011536074.3:c.-3C>T	XP_011534376.1:n.-3C>T
NM_003057.3:c.574C>T MANE Select	NP_003048.1:p.Leu192Phe
NM_153187.2:c.574C>T	NP_694857.1:p.Leu192Phe