Canonical Allele Identifier: CA400324307

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283519C>A (hg19) ; chr17:g.58206158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206158C>A , CM000679.2:g.58206158C>A	GRCh38
NC_000017.10:g.56283519C>A , CM000679.1:g.56283519C>A	GRCh37
NC_000017.9:g.53638518C>A	NCBI36
NG_013020.1:g.18431C>A
NG_013032.1:g.18448G>T , LRG_687:g.18448G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*13G>T	ENSP00000316631.6:n.*13G>T
ENST00000393119.7:c.1601G>T MANE Select	ENSP00000376827.2:p.Arg534Leu
ENST00000537529.7:c.1172G>T	ENSP00000442096.3:p.Arg391Leu
ENST00000675753.2:c.*1220G>T	ENSP00000502156.1:n.*1220G>T
ENST00000676787.1:c.1472G>T	ENSP00000503999.1:p.Arg491Leu
ENST00000677111.1:c.*1075G>T	ENSP00000504282.1:n.*1075G>T
ENST00000677160.1:n.2875G>T
ENST00000677416.1:n.2922G>T
ENST00000677486.1:c.*945G>T	ENSP00000503852.1:n.*945G>T
ENST00000677709.1:n.2301G>T
ENST00000678011.1:n.2501G>T
ENST00000678432.1:c.*1375G>T	ENSP00000504452.1:n.*1375G>T
ENST00000678463.1:c.1518G>T	ENSP00000502984.1:p.Ser506=
ENST00000678568.1:c.*925G>T	ENSP00000504754.1:n.*925G>T
ENST00000678641.1:c.*945G>T	ENSP00000503159.1:n.*945G>T
ENST00000678763.1:n.1916G>T
ENST00000313863.10:c.*13G>T	ENSP00000316631.6:n.*13G>T
ENST00000393119.6:c.1601G>T	ENSP00000376827.2:p.Arg534Leu
ENST00000393120.6:c.*1008G>T	ENSP00000376828.2:n.*1008G>T
ENST00000537529.6:c.1571G>T	ENSP00000442096.2:p.Arg524Leu
ENST00000583577.1:n.427G>T
NM_001165927.1:c.1571G>T , LRG_687t2:c.1571G>T	NP_001159399.1:p.Arg524Leu
NM_017777.3:c.1601G>T , LRG_687t1:c.1601G>T	NP_060247.2:p.Arg534Leu
XM_005257483.3:c.1518G>T	XP_005257540.1:p.Ser506=
XM_005257485.3:c.1089G>T	XP_005257542.1:p.Ser363=
XM_005257486.3:c.992G>T	XP_005257543.1:p.Arg331Leu
XM_006721965.2:c.909G>T	XP_006722028.1:p.Ser303=
XM_011524957.1:c.1527G>T	XP_011523259.1:p.Ser509=
XM_011524958.1:c.1610G>T	XP_011523260.1:p.Arg537Leu
XM_011524959.1:c.*13G>T	XP_011523261.1:n.*13G>T
NM_001321268.1:c.992G>T	NP_001308197.1:p.Arg331Leu
NM_001321269.1:c.1518G>T	NP_001308198.1:p.Ser506=
NM_001330397.1:c.*13G>T	NP_001317326.1:n.*13G>T
XM_005257485.4:c.1089G>T	XP_005257542.1:p.Ser363=
XM_006721965.3:c.909G>T	XP_006722028.1:p.Ser303=
XM_011524957.2:c.1527G>T	XP_011523259.1:p.Ser509=
XM_011524958.2:c.1610G>T	XP_011523260.1:p.Arg537Leu
XM_011524959.2:c.*13G>T	XP_011523261.1:n.*13G>T
XM_017024805.1:c.1172G>T	XP_016880294.1:p.Arg391Leu
XR_002958042.1:n.1529G>T
NM_001321268.2:c.992G>T	NP_001308197.1:p.Arg331Leu
NM_001321269.2:c.1518G>T	NP_001308198.1:p.Ser506=
NM_001330397.2:c.*13G>T	NP_001317326.1:n.*13G>T
NM_017777.4:c.1601G>T MANE Select	NP_060247.2:p.Arg534Leu