Canonical Allele Identifier: CA292007306

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1654920
• ClinVar RCV Id: RCV002156417
• dbSNP Id: rs921675582
• gnomAD v4: 17-58206082-G-A
• MyVariant Identifiers: chr17:g.56283443G>A (hg19) ; chr17:g.58206082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206082G>A , CM000679.2:g.58206082G>A	GRCh38
NC_000017.10:g.56283443G>A , CM000679.1:g.56283443G>A	GRCh37
NC_000017.9:g.53638442G>A	NCBI36
NG_013020.1:g.18355G>A
NG_013032.1:g.18524C>T , LRG_687:g.18524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*89C>T	ENSP00000316631.6:n.*89C>T
ENST00000393119.7:c.1677C>T MANE Select	ENSP00000376827.2:p.Ser559=
ENST00000537529.7:c.1248C>T	ENSP00000442096.3:p.Ser416=
ENST00000675753.2:c.*1296C>T	ENSP00000502156.1:n.*1296C>T
ENST00000676787.1:c.1548C>T	ENSP00000503999.1:p.Ser516=
ENST00000677111.1:c.*1151C>T	ENSP00000504282.1:n.*1151C>T
ENST00000677160.1:n.2951C>T
ENST00000677416.1:n.2998C>T
ENST00000677486.1:c.*1021C>T	ENSP00000503852.1:n.*1021C>T
ENST00000677709.1:n.2377C>T
ENST00000678011.1:n.2577C>T
ENST00000678432.1:c.*1451C>T	ENSP00000504452.1:n.*1451C>T
ENST00000678463.1:c.1594C>T	ENSP00000502984.1:p.Leu532=
ENST00000678568.1:c.*1001C>T	ENSP00000504754.1:n.*1001C>T
ENST00000678641.1:c.*1021C>T	ENSP00000503159.1:n.*1021C>T
ENST00000678763.1:n.1992C>T
ENST00000313863.10:c.*89C>T	ENSP00000316631.6:n.*89C>T
ENST00000393119.6:c.1677C>T	ENSP00000376827.2:p.Ser559=
ENST00000393120.6:c.*1084C>T	ENSP00000376828.2:n.*1084C>T
ENST00000537529.6:c.1647C>T	ENSP00000442096.2:p.Ser549=
ENST00000583577.1:n.503C>T
NM_001165927.1:c.1647C>T , LRG_687t2:c.1647C>T	NP_001159399.1:p.Ser549=
NM_017777.3:c.1677C>T , LRG_687t1:c.1677C>T	NP_060247.2:p.Ser559=
XM_005257483.3:c.1594C>T	XP_005257540.1:p.Leu532=
XM_005257485.3:c.1165C>T	XP_005257542.1:p.Leu389=
XM_005257486.3:c.1068C>T	XP_005257543.1:p.Ser356=
XM_006721965.2:c.985C>T	XP_006722028.1:p.Leu329=
XM_011524957.1:c.1603C>T	XP_011523259.1:p.Leu535=
XM_011524958.1:c.1686C>T	XP_011523260.1:p.Ser562=
XM_011524959.1:c.*89C>T	XP_011523261.1:n.*89C>T
NM_001321268.1:c.1068C>T	NP_001308197.1:p.Ser356=
NM_001321269.1:c.1594C>T	NP_001308198.1:p.Leu532=
NM_001330397.1:c.*89C>T	NP_001317326.1:n.*89C>T
XM_005257485.4:c.1165C>T	XP_005257542.1:p.Leu389=
XM_006721965.3:c.985C>T	XP_006722028.1:p.Leu329=
XM_011524957.2:c.1603C>T	XP_011523259.1:p.Leu535=
XM_011524958.2:c.1686C>T	XP_011523260.1:p.Ser562=
XM_011524959.2:c.*89C>T	XP_011523261.1:n.*89C>T
XM_017024805.1:c.1248C>T	XP_016880294.1:p.Ser416=
XR_002958042.1:n.1605C>T
NM_001321268.2:c.1068C>T	NP_001308197.1:p.Ser356=
NM_001321269.2:c.1594C>T	NP_001308198.1:p.Leu532=
NM_001330397.2:c.*89C>T	NP_001317326.1:n.*89C>T
NM_017777.4:c.1677C>T MANE Select	NP_060247.2:p.Ser559=