Canonical Allele Identifier: CA400324311

Gene: MKS1

Linked Data

• gnomAD v4: 17-58206162-G-C
• MyVariant Identifiers: chr17:g.56283523G>C (hg19) ; chr17:g.58206162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206162G>C , CM000679.2:g.58206162G>C	GRCh38
NC_000017.10:g.56283523G>C , CM000679.1:g.56283523G>C	GRCh37
NC_000017.9:g.53638522G>C	NCBI36
NG_013020.1:g.18435G>C
NG_013032.1:g.18444C>G , LRG_687:g.18444C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*9C>G	ENSP00000316631.6:n.*9C>G
ENST00000393119.7:c.1597C>G MANE Select	ENSP00000376827.2:p.Arg533Gly
ENST00000537529.7:c.1168C>G	ENSP00000442096.3:p.Arg390Gly
ENST00000675753.2:c.*1216C>G	ENSP00000502156.1:n.*1216C>G
ENST00000676787.1:c.1468C>G	ENSP00000503999.1:p.Arg490Gly
ENST00000677111.1:c.*1071C>G	ENSP00000504282.1:n.*1071C>G
ENST00000677160.1:n.2871C>G
ENST00000677416.1:n.2918C>G
ENST00000677486.1:c.*941C>G	ENSP00000503852.1:n.*941C>G
ENST00000677709.1:n.2297C>G
ENST00000678011.1:n.2497C>G
ENST00000678432.1:c.*1371C>G	ENSP00000504452.1:n.*1371C>G
ENST00000678463.1:c.1514C>G	ENSP00000502984.1:p.Pro505Arg
ENST00000678568.1:c.*921C>G	ENSP00000504754.1:n.*921C>G
ENST00000678641.1:c.*941C>G	ENSP00000503159.1:n.*941C>G
ENST00000678763.1:n.1912C>G
ENST00000313863.10:c.*9C>G	ENSP00000316631.6:n.*9C>G
ENST00000393119.6:c.1597C>G	ENSP00000376827.2:p.Arg533Gly
ENST00000393120.6:c.*1004C>G	ENSP00000376828.2:n.*1004C>G
ENST00000537529.6:c.1567C>G	ENSP00000442096.2:p.Arg523Gly
ENST00000583577.1:n.423C>G
NM_001165927.1:c.1567C>G , LRG_687t2:c.1567C>G	NP_001159399.1:p.Arg523Gly
NM_017777.3:c.1597C>G , LRG_687t1:c.1597C>G	NP_060247.2:p.Arg533Gly
XM_005257483.3:c.1514C>G	XP_005257540.1:p.Pro505Arg
XM_005257485.3:c.1085C>G	XP_005257542.1:p.Pro362Arg
XM_005257486.3:c.988C>G	XP_005257543.1:p.Arg330Gly
XM_006721965.2:c.905C>G	XP_006722028.1:p.Pro302Arg
XM_011524957.1:c.1523C>G	XP_011523259.1:p.Pro508Arg
XM_011524958.1:c.1606C>G	XP_011523260.1:p.Arg536Gly
XM_011524959.1:c.*9C>G	XP_011523261.1:n.*9C>G
NM_001321268.1:c.988C>G	NP_001308197.1:p.Arg330Gly
NM_001321269.1:c.1514C>G	NP_001308198.1:p.Pro505Arg
NM_001330397.1:c.*9C>G	NP_001317326.1:n.*9C>G
XM_005257485.4:c.1085C>G	XP_005257542.1:p.Pro362Arg
XM_006721965.3:c.905C>G	XP_006722028.1:p.Pro302Arg
XM_011524957.2:c.1523C>G	XP_011523259.1:p.Pro508Arg
XM_011524958.2:c.1606C>G	XP_011523260.1:p.Arg536Gly
XM_011524959.2:c.*9C>G	XP_011523261.1:n.*9C>G
XM_017024805.1:c.1168C>G	XP_016880294.1:p.Arg390Gly
XR_002958042.1:n.1525C>G
NM_001321268.2:c.988C>G	NP_001308197.1:p.Arg330Gly
NM_001321269.2:c.1514C>G	NP_001308198.1:p.Pro505Arg
NM_001330397.2:c.*9C>G	NP_001317326.1:n.*9C>G
NM_017777.4:c.1597C>G MANE Select	NP_060247.2:p.Arg533Gly