Canonical Allele Identifier: CA8669064

Gene: MKS1

Linked Data

• ClinVar Variation Id: 260883
• ClinVar RCV Id: RCV000254542 ; RCV000664641 ; RCV001504468
• dbSNP Id: rs772719574
• ExAC: 17:56283520 G / T
• gnomAD v2: 17-56283520-G-T
• gnomAD v4: 17-58206159-G-T
• MyVariant Identifiers: chr17:g.56283520G>T (hg19) ; chr17:g.58206159G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*12C>A	ENSP00000316631.6:n.*12C>A
ENST00000393119.7:c.1600C>A MANE Select	ENSP00000376827.2:p.Arg534=
ENST00000537529.7:c.1171C>A	ENSP00000442096.3:p.Arg391=
ENST00000675753.2:c.*1219C>A	ENSP00000502156.1:n.*1219C>A
ENST00000676787.1:c.1471C>A	ENSP00000503999.1:p.Arg491=
ENST00000677111.1:c.*1074C>A	ENSP00000504282.1:n.*1074C>A
ENST00000677160.1:n.2874C>A
ENST00000677416.1:n.2921C>A
ENST00000677486.1:c.*944C>A	ENSP00000503852.1:n.*944C>A
ENST00000677709.1:n.2300C>A
ENST00000678011.1:n.2500C>A
ENST00000678432.1:c.*1374C>A	ENSP00000504452.1:n.*1374C>A
ENST00000678463.1:c.1517C>A	ENSP00000502984.1:p.Ser506Ter
ENST00000678568.1:c.*924C>A	ENSP00000504754.1:n.*924C>A
ENST00000678641.1:c.*944C>A	ENSP00000503159.1:n.*944C>A
ENST00000678763.1:n.1915C>A
ENST00000313863.10:c.*12C>A	ENSP00000316631.6:n.*12C>A
ENST00000393119.6:c.1600C>A	ENSP00000376827.2:p.Arg534=
ENST00000393120.6:c.*1007C>A	ENSP00000376828.2:n.*1007C>A
ENST00000537529.6:c.1570C>A	ENSP00000442096.2:p.Arg524=
ENST00000583577.1:n.426C>A
NM_001165927.1:c.1570C>A , LRG_687t2:c.1570C>A	NP_001159399.1:p.Arg524=
NM_017777.3:c.1600C>A , LRG_687t1:c.1600C>A	NP_060247.2:p.Arg534=
XM_005257483.3:c.1517C>A	XP_005257540.1:p.Ser506Ter
XM_005257485.3:c.1088C>A	XP_005257542.1:p.Ser363Ter
XM_005257486.3:c.991C>A	XP_005257543.1:p.Arg331=
XM_006721965.2:c.908C>A	XP_006722028.1:p.Ser303Ter
XM_011524957.1:c.1526C>A	XP_011523259.1:p.Ser509Ter
XM_011524958.1:c.1609C>A	XP_011523260.1:p.Arg537=
XM_011524959.1:c.*12C>A	XP_011523261.1:n.*12C>A
NM_001321268.1:c.991C>A	NP_001308197.1:p.Arg331=
NM_001321269.1:c.1517C>A	NP_001308198.1:p.Ser506Ter
NM_001330397.1:c.*12C>A	NP_001317326.1:n.*12C>A
XM_005257485.4:c.1088C>A	XP_005257542.1:p.Ser363Ter
XM_006721965.3:c.908C>A	XP_006722028.1:p.Ser303Ter
XM_011524957.2:c.1526C>A	XP_011523259.1:p.Ser509Ter
XM_011524958.2:c.1609C>A	XP_011523260.1:p.Arg537=
XM_011524959.2:c.*12C>A	XP_011523261.1:n.*12C>A
XM_017024805.1:c.1171C>A	XP_016880294.1:p.Arg391=
XR_002958042.1:n.1528C>A
NM_001321268.2:c.991C>A	NP_001308197.1:p.Arg331=
NM_001321269.2:c.1517C>A	NP_001308198.1:p.Ser506Ter
NM_001330397.2:c.*12C>A	NP_001317326.1:n.*12C>A
NM_017777.4:c.1600C>A MANE Select	NP_060247.2:p.Arg534=