Canonical Allele Identifier: CA8335108
Gene: SLC16A11 HGNC NCBI
COSMIC:
COSM6350517 (not active)
MyVariant.info:
GRCh38 chr17:g.7041768G>T
GRCh37 chr17:g.6945087G>T
Revel Score:
ENST00000308009 0.052
ENST00000447225 0.052
gnomAD v2:
17:6945087 G / T
gnomAD v3:
17:7041768 G / T
gnomAD v4:
chr17-7041768-G-T
Joint Max Group AF 0.24353304 (AMR)
Genomes Max Group AF 0.1448113 (AMR)
Exomes Max Group AF 0.27591309 (AMR)
dbSNP:
75493593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7041768G>T , CM000679.2:g.7041768G>T GRCh38
NC_000017.10:g.6945087G>T , CM000679.1:g.6945087G>T GRCh37
NC_000017.9:g.6885811G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000574600.3:c.1255C>A MANE Select ENSP00000460927.2:p.Pro419Thr
ENST00000662352.3:c.1255C>A ENSP00000499634.1:p.Pro419Thr
ENST00000673828.2:c.*163C>A ENSP00000501313.1:n.*163C>A
ENST00000308009.5:c.1327C>A ENSP00000310490.1:p.Pro443Thr
ENST00000447225.1:c.1231C>A ENSP00000394449.1:p.Pro411Thr
ENST00000573338.1:n.818C>A
NM_153357.1:c.1327C>A NP_699188.1:p.Pro443Thr
XM_005256488.2:c.1612C>A XP_005256545.2:p.Pro538Thr
XM_005256488.4:c.1612C>A XP_005256545.2:p.Pro538Thr
XM_017024282.2:c.844C>A XP_016879771.1:p.Pro282Thr
NM_153357.2:c.1255C>A NP_699188.2:p.Pro419Thr
NM_001370549.1:c.1255C>A MANE Select NP_001357478.1:p.Pro419Thr
NM_001370553.1:c.*163C>A NP_001357482.1:n.*163C>A
NM_153357.3:c.1255C>A NP_699188.2:p.Pro419Thr
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