Canonical Allele Identifier: CA571527558

Gene: SLC22A1

Linked Data

• dbSNP Id: rs1280197973
• gnomAD v2: 6-160560635-T-C
• gnomAD v3: 6-160139603-T-C
• gnomAD v4: 6-160139603-T-C
• MyVariant Identifiers: chr6:g.160560635T>C (hg19) ; chr6:g.160560635_160560636delinsCC (hg19) ; chr6:g.160139603T>C (hg38) ; chr6:g.160139603_160139604delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139603T>C , CM000668.2:g.160139603T>C	GRCh38
NC_000006.11:g.160560635T>C , CM000668.1:g.160560635T>C	GRCh37
NC_000006.10:g.160480625T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1062-50T>C MANE Select	ENSP00000355930.4:n.1062-50T>C
ENST00000324965.8:c.1062-50T>C	ENSP00000318103.4:n.1062-50T>C
ENST00000366963.8:c.1062-50T>C	ENSP00000355930.4:n.1062-50T>C
ENST00000457470.6:c.1062-50T>C	ENSP00000409557.2:n.1062-50T>C
ENST00000460902.2:c.1061+2953T>C	ENSP00000439274.1:n.1061+2953T>C
ENST00000539263.5:c.*535-50T>C	ENSP00000443245.1:n.*535-50T>C
NM_003057.2:c.1062-50T>C	NP_003048.1:n.1062-50T>C
NM_153187.1:c.1062-50T>C	NP_694857.1:n.1062-50T>C
XM_005267102.3:c.1062-50T>C	XP_005267159.1:n.1062-50T>C
XM_005267103.1:c.1062-50T>C	XP_005267160.1:n.1062-50T>C
XM_005267104.3:c.486-50T>C	XP_005267161.1:n.486-50T>C
XM_005267105.3:c.486-50T>C	XP_005267162.1:n.486-50T>C
XM_006715552.1:c.1062-50T>C	XP_006715615.1:n.1062-50T>C
XM_011536074.1:c.486-50T>C	XP_011534376.1:n.486-50T>C
XM_005267102.5:c.1062-50T>C	XP_005267159.1:n.1062-50T>C
XM_005267103.2:c.1062-50T>C	XP_005267160.1:n.1062-50T>C
XM_005267104.5:c.486-50T>C	XP_005267161.1:n.486-50T>C
XM_005267105.5:c.486-50T>C	XP_005267162.1:n.486-50T>C
XM_006715552.2:c.1062-50T>C	XP_006715615.1:n.1062-50T>C
XM_011536074.3:c.486-50T>C	XP_011534376.1:n.486-50T>C
NM_003057.3:c.1062-50T>C MANE Select	NP_003048.1:n.1062-50T>C
NM_153187.2:c.1062-50T>C	NP_694857.1:n.1062-50T>C