Canonical Allele Identifier: CA8669068

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1038597
• ClinVar RCV Id: RCV001341926
• dbSNP Id: rs751294519
• ExAC: 17:56283528 G / T
• gnomAD v2: 17-56283528-G-T
• gnomAD v3: 17-58206167-G-T
• gnomAD v4: 17-58206167-G-T
• MyVariant Identifiers: chr17:g.56283528G>T (hg19) ; chr17:g.58206167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206167G>T , CM000679.2:g.58206167G>T	GRCh38
NC_000017.10:g.56283528G>T , CM000679.1:g.56283528G>T	GRCh37
NC_000017.9:g.53638527G>T	NCBI36
NG_013020.1:g.18440G>T
NG_013032.1:g.18439C>A , LRG_687:g.18439C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*4C>A	ENSP00000316631.6:n.*4C>A
ENST00000393119.7:c.1592C>A MANE Select	ENSP00000376827.2:p.Ala531Asp
ENST00000537529.7:c.1163C>A	ENSP00000442096.3:p.Ala388Asp
ENST00000675753.2:c.*1211C>A	ENSP00000502156.1:n.*1211C>A
ENST00000676787.1:c.1463C>A	ENSP00000503999.1:p.Ala488Asp
ENST00000677111.1:c.*1066C>A	ENSP00000504282.1:n.*1066C>A
ENST00000677160.1:n.2866C>A
ENST00000677416.1:n.2913C>A
ENST00000677486.1:c.*936C>A	ENSP00000503852.1:n.*936C>A
ENST00000677709.1:n.2292C>A
ENST00000678011.1:n.2492C>A
ENST00000678432.1:c.*1366C>A	ENSP00000504452.1:n.*1366C>A
ENST00000678463.1:c.1509C>A	ENSP00000502984.1:p.Gly503=
ENST00000678568.1:c.*916C>A	ENSP00000504754.1:n.*916C>A
ENST00000678641.1:c.*936C>A	ENSP00000503159.1:n.*936C>A
ENST00000678763.1:n.1907C>A
ENST00000313863.10:c.*4C>A	ENSP00000316631.6:n.*4C>A
ENST00000393119.6:c.1592C>A	ENSP00000376827.2:p.Ala531Asp
ENST00000393120.6:c.*999C>A	ENSP00000376828.2:n.*999C>A
ENST00000537529.6:c.1562C>A	ENSP00000442096.2:p.Ala521Asp
ENST00000583577.1:n.418C>A
NM_001165927.1:c.1562C>A , LRG_687t2:c.1562C>A	NP_001159399.1:p.Ala521Asp
NM_017777.3:c.1592C>A , LRG_687t1:c.1592C>A	NP_060247.2:p.Ala531Asp
XM_005257483.3:c.1509C>A	XP_005257540.1:p.Gly503=
XM_005257485.3:c.1080C>A	XP_005257542.1:p.Gly360=
XM_005257486.3:c.983C>A	XP_005257543.1:p.Ala328Asp
XM_006721965.2:c.900C>A	XP_006722028.1:p.Gly300=
XM_011524957.1:c.1518C>A	XP_011523259.1:p.Gly506=
XM_011524958.1:c.1601C>A	XP_011523260.1:p.Ala534Asp
XM_011524959.1:c.*4C>A	XP_011523261.1:n.*4C>A
NM_001321268.1:c.983C>A	NP_001308197.1:p.Ala328Asp
NM_001321269.1:c.1509C>A	NP_001308198.1:p.Gly503=
NM_001330397.1:c.*4C>A	NP_001317326.1:n.*4C>A
XM_005257485.4:c.1080C>A	XP_005257542.1:p.Gly360=
XM_006721965.3:c.900C>A	XP_006722028.1:p.Gly300=
XM_011524957.2:c.1518C>A	XP_011523259.1:p.Gly506=
XM_011524958.2:c.1601C>A	XP_011523260.1:p.Ala534Asp
XM_011524959.2:c.*4C>A	XP_011523261.1:n.*4C>A
XM_017024805.1:c.1163C>A	XP_016880294.1:p.Ala388Asp
XR_002958042.1:n.1520C>A
NM_001321268.2:c.983C>A	NP_001308197.1:p.Ala328Asp
NM_001321269.2:c.1509C>A	NP_001308198.1:p.Gly503=
NM_001330397.2:c.*4C>A	NP_001317326.1:n.*4C>A
NM_017777.4:c.1592C>A MANE Select	NP_060247.2:p.Ala531Asp