Canonical Allele Identifier: CA10607495
Gene: SLC16A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291840
ClinVar RCV Id: RCV000277075
dbSNP Id: rs886045065
gnomAD v2: 1-113455543-G-GA
gnomAD v3: 1-112912921-G-GA
gnomAD v4: 1-112912921-G-GA
MyVariant Identifiers: chr1:g.113455544dupA (hg19) chr1:g.113455543_113455544insA (hg19) chr1:g.112912922dupA (hg38) chr1:g.112912921_112912922insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112912930dup , CM000663.2:g.112912930dup GRCh38
NC_000001.10:g.113455552dup , CM000663.1:g.113455552dup GRCh37
NC_000001.9:g.113257075dup NCBI36
NG_015880.2:g.48007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369626.8:c.*969dup MANE Select ENSP00000358640.4:n.*969dup
ENST00000429288.2:c.*969dup ENSP00000397106.2:n.*969dup
ENST00000443580.6:c.*969dup ENSP00000399104.2:n.*969dup
ENST00000458229.6:c.*969dup ENSP00000416167.2:n.*969dup
ENST00000679803.1:c.*969dup ENSP00000505879.1:n.*969dup
ENST00000369626.7:c.*969dup ENSP00000358640.3:n.*969dup
ENST00000538576.5:c.*969dup ENSP00000441065.1:n.*969dup
NM_001166496.1:c.*969dup NP_001159968.1:n.*969dup
NM_003051.3:c.*969dup NP_003042.3:n.*969dup
XM_011542026.1:c.*969dup XP_011540328.1:n.*969dup
XM_011542027.1:c.*969dup XP_011540329.1:n.*969dup
NM_003051.4:c.*969dup MANE Select NP_003042.3:n.*969dup
NM_001166496.2:c.*969dup NP_001159968.1:n.*969dup
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