Canonical Allele Identifier: CA3721603
Gene: MSH5 HGNC NCBI
MSH5-SAPCD1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31762148C>T
GRCh37 chr6:g.31729925C>T
Revel Score:
ENST00000375755 0.161
ENST00000375742 0.161
ENST00000375750 (MANE Select) 0.161
ENST00000534153 0.161
ENST00000375703 0.161
ENST00000375740 0.161
ENST00000431848 0.161
ENST00000395853 0.161
ENST00000429846 0.161
ENST00000491552 0.161
gnomAD v2:
6:31729925 C / T
gnomAD v3:
6:31762148 C / T
gnomAD v4:
chr6-31762148-C-T
Joint Max Group AF 0.1133132 (AFR)
Genomes Max Group AF 0.11192987 (AFR)
Exomes Max Group AF 0.11316175 (AFR)
ClinVar RCV:
RCV003979337
ClinVar Variation:
3056743
dbSNP:
1802127
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31762148C>T , CM000668.2:g.31762148C>T GRCh38
NC_000006.11:g.31729925C>T , CM000668.1:g.31729925C>T GRCh37
NC_000006.10:g.31837904C>T NCBI36
NG_011611.1:g.27152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375750.9:c.2356C>T (MSH5) MANE Select ENSP00000364903.3:p.Pro786Ser
ENST00000375755.8:c.2356C>T (MSH5) ENSP00000364908.3:p.Pro786Ser
ENST00000650702.1:n.2783C>T (MSH5)
ENST00000375703.7:c.2359C>T (MSH5) ENSP00000364855.3:p.Pro787Ser
ENST00000375740.7:c.2320C>T (MSH5) ENSP00000364892.3:p.Pro774Ser
ENST00000375750.7:c.2356C>T (MSH5) ENSP00000364903.3:p.Pro786Ser
ENST00000375755.7:c.2356C>T (MSH5) ENSP00000364908.3:p.Pro786Ser
ENST00000395853.5:c.1378C>T (MSH5) ENSP00000379194.1:p.Pro460Ser
ENST00000423982.6:c.*344C>T (MSH5) ENSP00000406352.2:n.*344C>T
ENST00000429846.1:c.322C>T (MSH5) ENSP00000406849.1:p.Pro108Ser
ENST00000463144.5:c.2043C>T (MSH5)
ENST00000484309.5:c.563C>T (MSH5) ENSP00000420232.1:n.563C>T
ENST00000491552.1:n.424C>T (MSH5-SAPCD1)
ENST00000493662.6:c.2407C>T (MSH5-SAPCD1) ENSP00000417871.2:p.Pro803Ser
ENST00000494458.1:n.226C>T (MSH5)
ENST00000498473.6:c.907C>T (MSH5-SAPCD1)
NM_002441.4:c.2356C>T (MSH5) NP_002432.1:p.Pro786Ser
NM_025259.5:c.2320C>T (MSH5) NP_079535.4:p.Pro774Ser
NM_172165.3:c.2359C>T (MSH5) NP_751897.1:p.Pro787Ser
NM_172166.3:c.2356C>T (MSH5) NP_751898.1:p.Pro786Ser
NR_037846.1:n.2535C>T (MSH5-SAPCD1)
NM_172166.4:c.2356C>T (MSH5) MANE Select NP_751898.1:p.Pro786Ser
NM_002441.5:c.2356C>T (MSH5) NP_002432.1:p.Pro786Ser
NM_025259.6:c.2320C>T (MSH5) NP_079535.4:p.Pro774Ser
NM_172165.4:c.2359C>T (MSH5) NP_751897.1:p.Pro787Ser
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