Canonical Allele Identifier: CA400324319

Gene: MKS1

Linked Data

• dbSNP Id: rs1347023400
• gnomAD v2: 17-56283526-A-G
• gnomAD v3: 17-58206165-A-G
• gnomAD v4: 17-58206165-A-G
• MyVariant Identifiers: chr17:g.56283526A>G (hg19) ; chr17:g.58206165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206165A>G , CM000679.2:g.58206165A>G	GRCh38
NC_000017.10:g.56283526A>G , CM000679.1:g.56283526A>G	GRCh37
NC_000017.9:g.53638525A>G	NCBI36
NG_013020.1:g.18438A>G
NG_013032.1:g.18441T>C , LRG_687:g.18441T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*6T>C	ENSP00000316631.6:n.*6T>C
ENST00000393119.7:c.1594T>C MANE Select	ENSP00000376827.2:p.Phe532Leu
ENST00000537529.7:c.1165T>C	ENSP00000442096.3:p.Phe389Leu
ENST00000675753.2:c.*1213T>C	ENSP00000502156.1:n.*1213T>C
ENST00000676787.1:c.1465T>C	ENSP00000503999.1:p.Phe489Leu
ENST00000677111.1:c.*1068T>C	ENSP00000504282.1:n.*1068T>C
ENST00000677160.1:n.2868T>C
ENST00000677416.1:n.2915T>C
ENST00000677486.1:c.*938T>C	ENSP00000503852.1:n.*938T>C
ENST00000677709.1:n.2294T>C
ENST00000678011.1:n.2494T>C
ENST00000678432.1:c.*1368T>C	ENSP00000504452.1:n.*1368T>C
ENST00000678463.1:c.1511T>C	ENSP00000502984.1:p.Leu504Pro
ENST00000678568.1:c.*918T>C	ENSP00000504754.1:n.*918T>C
ENST00000678641.1:c.*938T>C	ENSP00000503159.1:n.*938T>C
ENST00000678763.1:n.1909T>C
ENST00000313863.10:c.*6T>C	ENSP00000316631.6:n.*6T>C
ENST00000393119.6:c.1594T>C	ENSP00000376827.2:p.Phe532Leu
ENST00000393120.6:c.*1001T>C	ENSP00000376828.2:n.*1001T>C
ENST00000537529.6:c.1564T>C	ENSP00000442096.2:p.Phe522Leu
ENST00000583577.1:n.420T>C
NM_001165927.1:c.1564T>C , LRG_687t2:c.1564T>C	NP_001159399.1:p.Phe522Leu
NM_017777.3:c.1594T>C , LRG_687t1:c.1594T>C	NP_060247.2:p.Phe532Leu
XM_005257483.3:c.1511T>C	XP_005257540.1:p.Leu504Pro
XM_005257485.3:c.1082T>C	XP_005257542.1:p.Leu361Pro
XM_005257486.3:c.985T>C	XP_005257543.1:p.Phe329Leu
XM_006721965.2:c.902T>C	XP_006722028.1:p.Leu301Pro
XM_011524957.1:c.1520T>C	XP_011523259.1:p.Leu507Pro
XM_011524958.1:c.1603T>C	XP_011523260.1:p.Phe535Leu
XM_011524959.1:c.*6T>C	XP_011523261.1:n.*6T>C
NM_001321268.1:c.985T>C	NP_001308197.1:p.Phe329Leu
NM_001321269.1:c.1511T>C	NP_001308198.1:p.Leu504Pro
NM_001330397.1:c.*6T>C	NP_001317326.1:n.*6T>C
XM_005257485.4:c.1082T>C	XP_005257542.1:p.Leu361Pro
XM_006721965.3:c.902T>C	XP_006722028.1:p.Leu301Pro
XM_011524957.2:c.1520T>C	XP_011523259.1:p.Leu507Pro
XM_011524958.2:c.1603T>C	XP_011523260.1:p.Phe535Leu
XM_011524959.2:c.*6T>C	XP_011523261.1:n.*6T>C
XM_017024805.1:c.1165T>C	XP_016880294.1:p.Phe389Leu
XR_002958042.1:n.1522T>C
NM_001321268.2:c.985T>C	NP_001308197.1:p.Phe329Leu
NM_001321269.2:c.1511T>C	NP_001308198.1:p.Leu504Pro
NM_001330397.2:c.*6T>C	NP_001317326.1:n.*6T>C
NM_017777.4:c.1594T>C MANE Select	NP_060247.2:p.Phe532Leu