Canonical Allele Identifier: CA292007497

Gene: MKS1

Linked Data

• ClinVar Variation Id: 554287
• ClinVar RCV Id: RCV001201422 ; RCV001830443
• dbSNP Id: rs772719574
• gnomAD v2: 17-56283520-G-A
• gnomAD v3: 17-58206159-G-A
• gnomAD v4: 17-58206159-G-A
• COSMIC: COSM262028
• MyVariant Identifiers: chr17:g.56283520G>A (hg19) ; chr17:g.58206159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206159G>A , CM000679.2:g.58206159G>A	GRCh38
NC_000017.10:g.56283520G>A , CM000679.1:g.56283520G>A	GRCh37
NC_000017.9:g.53638519G>A	NCBI36
NG_013020.1:g.18432G>A
NG_013032.1:g.18447C>T , LRG_687:g.18447C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*12C>T	ENSP00000316631.6:n.*12C>T
ENST00000393119.7:c.1600C>T MANE Select	ENSP00000376827.2:p.Arg534Ter
ENST00000537529.7:c.1171C>T	ENSP00000442096.3:p.Arg391Ter
ENST00000675753.2:c.*1219C>T	ENSP00000502156.1:n.*1219C>T
ENST00000676787.1:c.1471C>T	ENSP00000503999.1:p.Arg491Ter
ENST00000677111.1:c.*1074C>T	ENSP00000504282.1:n.*1074C>T
ENST00000677160.1:n.2874C>T
ENST00000677416.1:n.2921C>T
ENST00000677486.1:c.*944C>T	ENSP00000503852.1:n.*944C>T
ENST00000677709.1:n.2300C>T
ENST00000678011.1:n.2500C>T
ENST00000678432.1:c.*1374C>T	ENSP00000504452.1:n.*1374C>T
ENST00000678463.1:c.1517C>T	ENSP00000502984.1:p.Ser506Leu
ENST00000678568.1:c.*924C>T	ENSP00000504754.1:n.*924C>T
ENST00000678641.1:c.*944C>T	ENSP00000503159.1:n.*944C>T
ENST00000678763.1:n.1915C>T
ENST00000313863.10:c.*12C>T	ENSP00000316631.6:n.*12C>T
ENST00000393119.6:c.1600C>T	ENSP00000376827.2:p.Arg534Ter
ENST00000393120.6:c.*1007C>T	ENSP00000376828.2:n.*1007C>T
ENST00000537529.6:c.1570C>T	ENSP00000442096.2:p.Arg524Ter
ENST00000583577.1:n.426C>T
NM_001165927.1:c.1570C>T , LRG_687t2:c.1570C>T	NP_001159399.1:p.Arg524Ter
NM_017777.3:c.1600C>T , LRG_687t1:c.1600C>T	NP_060247.2:p.Arg534Ter
XM_005257483.3:c.1517C>T	XP_005257540.1:p.Ser506Leu
XM_005257485.3:c.1088C>T	XP_005257542.1:p.Ser363Leu
XM_005257486.3:c.991C>T	XP_005257543.1:p.Arg331Ter
XM_006721965.2:c.908C>T	XP_006722028.1:p.Ser303Leu
XM_011524957.1:c.1526C>T	XP_011523259.1:p.Ser509Leu
XM_011524958.1:c.1609C>T	XP_011523260.1:p.Arg537Ter
XM_011524959.1:c.*12C>T	XP_011523261.1:n.*12C>T
NM_001321268.1:c.991C>T	NP_001308197.1:p.Arg331Ter
NM_001321269.1:c.1517C>T	NP_001308198.1:p.Ser506Leu
NM_001330397.1:c.*12C>T	NP_001317326.1:n.*12C>T
XM_005257485.4:c.1088C>T	XP_005257542.1:p.Ser363Leu
XM_006721965.3:c.908C>T	XP_006722028.1:p.Ser303Leu
XM_011524957.2:c.1526C>T	XP_011523259.1:p.Ser509Leu
XM_011524958.2:c.1609C>T	XP_011523260.1:p.Arg537Ter
XM_011524959.2:c.*12C>T	XP_011523261.1:n.*12C>T
XM_017024805.1:c.1171C>T	XP_016880294.1:p.Arg391Ter
XR_002958042.1:n.1528C>T
NM_001321268.2:c.991C>T	NP_001308197.1:p.Arg331Ter
NM_001321269.2:c.1517C>T	NP_001308198.1:p.Ser506Leu
NM_001330397.2:c.*12C>T	NP_001317326.1:n.*12C>T
NM_017777.4:c.1600C>T MANE Select	NP_060247.2:p.Arg534Ter