Canonical Allele Identifier: CA400324312

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283523G>T (hg19) ; chr17:g.58206162G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*9C>A	ENSP00000316631.6:n.*9C>A
ENST00000393119.7:c.1597C>A MANE Select	ENSP00000376827.2:p.Arg533Ser
ENST00000537529.7:c.1168C>A	ENSP00000442096.3:p.Arg390Ser
ENST00000675753.2:c.*1216C>A	ENSP00000502156.1:n.*1216C>A
ENST00000676787.1:c.1468C>A	ENSP00000503999.1:p.Arg490Ser
ENST00000677111.1:c.*1071C>A	ENSP00000504282.1:n.*1071C>A
ENST00000677160.1:n.2871C>A
ENST00000677416.1:n.2918C>A
ENST00000677486.1:c.*941C>A	ENSP00000503852.1:n.*941C>A
ENST00000677709.1:n.2297C>A
ENST00000678011.1:n.2497C>A
ENST00000678432.1:c.*1371C>A	ENSP00000504452.1:n.*1371C>A
ENST00000678463.1:c.1514C>A	ENSP00000502984.1:p.Pro505Gln
ENST00000678568.1:c.*921C>A	ENSP00000504754.1:n.*921C>A
ENST00000678641.1:c.*941C>A	ENSP00000503159.1:n.*941C>A
ENST00000678763.1:n.1912C>A
ENST00000313863.10:c.*9C>A	ENSP00000316631.6:n.*9C>A
ENST00000393119.6:c.1597C>A	ENSP00000376827.2:p.Arg533Ser
ENST00000393120.6:c.*1004C>A	ENSP00000376828.2:n.*1004C>A
ENST00000537529.6:c.1567C>A	ENSP00000442096.2:p.Arg523Ser
ENST00000583577.1:n.423C>A
NM_001165927.1:c.1567C>A , LRG_687t2:c.1567C>A	NP_001159399.1:p.Arg523Ser
NM_017777.3:c.1597C>A , LRG_687t1:c.1597C>A	NP_060247.2:p.Arg533Ser
XM_005257483.3:c.1514C>A	XP_005257540.1:p.Pro505Gln
XM_005257485.3:c.1085C>A	XP_005257542.1:p.Pro362Gln
XM_005257486.3:c.988C>A	XP_005257543.1:p.Arg330Ser
XM_006721965.2:c.905C>A	XP_006722028.1:p.Pro302Gln
XM_011524957.1:c.1523C>A	XP_011523259.1:p.Pro508Gln
XM_011524958.1:c.1606C>A	XP_011523260.1:p.Arg536Ser
XM_011524959.1:c.*9C>A	XP_011523261.1:n.*9C>A
NM_001321268.1:c.988C>A	NP_001308197.1:p.Arg330Ser
NM_001321269.1:c.1514C>A	NP_001308198.1:p.Pro505Gln
NM_001330397.1:c.*9C>A	NP_001317326.1:n.*9C>A
XM_005257485.4:c.1085C>A	XP_005257542.1:p.Pro362Gln
XM_006721965.3:c.905C>A	XP_006722028.1:p.Pro302Gln
XM_011524957.2:c.1523C>A	XP_011523259.1:p.Pro508Gln
XM_011524958.2:c.1606C>A	XP_011523260.1:p.Arg536Ser
XM_011524959.2:c.*9C>A	XP_011523261.1:n.*9C>A
XM_017024805.1:c.1168C>A	XP_016880294.1:p.Arg390Ser
XR_002958042.1:n.1525C>A
NM_001321268.2:c.988C>A	NP_001308197.1:p.Arg330Ser
NM_001321269.2:c.1514C>A	NP_001308198.1:p.Pro505Gln
NM_001330397.2:c.*9C>A	NP_001317326.1:n.*9C>A
NM_017777.4:c.1597C>A MANE Select	NP_060247.2:p.Arg533Ser