Canonical Allele Identifier: CA8335334
Gene: SLC16A11 HGNC NCBI
COSMIC:
COSM6351067 (not active)
MyVariant.info:
GRCh38 chr17:g.7043011C>T
GRCh37 chr17:g.6946330C>T
Revel Score:
ENST00000308009 0.030
ENST00000447225 0.030
gnomAD v2:
17:6946330 C / T
gnomAD v3:
17:7043011 C / T
gnomAD v4:
chr17-7043011-C-T
Joint Max Group AF 0.23933004 (AMR)
Genomes Max Group AF 0.14431973 (AMR)
Exomes Max Group AF 0.27227479 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7043011C>T , CM000679.2:g.7043011C>T GRCh38
NC_000017.10:g.6946330C>T , CM000679.1:g.6946330C>T GRCh37
NC_000017.9:g.6887054C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000574600.3:c.265G>A MANE Select ENSP00000460927.2:p.Val89Ile
ENST00000662352.3:c.265G>A ENSP00000499634.1:p.Val89Ile
ENST00000673828.2:c.265G>A ENSP00000501313.1:p.Val89Ile
ENST00000308009.5:c.337G>A ENSP00000310490.1:p.Val113Ile
ENST00000447225.1:c.265G>A ENSP00000394449.1:p.Val89Ile
ENST00000573338.1:n.596G>A
ENST00000574600.1:c.265G>A ENSP00000460927.1:p.Val89Ile
NM_153357.1:c.337G>A NP_699188.1:p.Val113Ile
XM_005256488.2:c.622G>A XP_005256545.2:p.Val208Ile
XM_011523696.1:c.622G>A XP_011521998.1:p.Val208Ile
XM_005256488.4:c.622G>A XP_005256545.2:p.Val208Ile
XM_017024281.1:c.622G>A XP_016879770.1:p.Val208Ile
XM_017024282.2:c.622G>A XP_016879771.1:p.Val208Ile
NM_153357.2:c.265G>A NP_699188.2:p.Val89Ile
NM_001370549.1:c.265G>A MANE Select NP_001357478.1:p.Val89Ile
NM_001370553.1:c.265G>A NP_001357482.1:p.Val89Ile
NM_153357.3:c.265G>A NP_699188.2:p.Val89Ile
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