Canonical Allele Identifier: CA400326358

Gene: MKS1

Linked Data

• gnomAD v4: 17-58212998-C-T
• COSMIC: COSM139068 ; COSM1384672
• MyVariant Identifiers: chr17:g.56290359C>T (hg19) ; chr17:g.58212998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58212998C>T , CM000679.2:g.58212998C>T	GRCh38
NC_000017.10:g.56290359C>T , CM000679.1:g.56290359C>T	GRCh37
NC_000017.9:g.53645358C>T	NCBI36
NG_013032.1:g.11608G>A , LRG_687:g.11608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.842G>A	ENSP00000316631.6:p.Arg281Gln
ENST00000393119.7:c.842G>A MANE Select	ENSP00000376827.2:p.Arg281Gln
ENST00000537529.7:c.413G>A	ENSP00000442096.3:p.Arg138Gln
ENST00000580127.6:c.842G>A	ENSP00000462423.2:p.Arg281Gln
ENST00000581761.6:c.842G>A	ENSP00000462129.2:p.Arg281Gln
ENST00000585134.2:c.842G>A	ENSP00000463826.2:p.Arg281Gln
ENST00000675753.2:c.*461G>A	ENSP00000502156.1:n.*461G>A
ENST00000676787.1:c.713G>A	ENSP00000503999.1:p.Arg238Gln
ENST00000676975.1:c.707G>A	ENSP00000503970.1:n.707G>A
ENST00000677076.1:n.2116G>A
ENST00000677111.1:c.842G>A	ENSP00000504282.1:p.Arg281Gln
ENST00000677160.1:n.2116G>A
ENST00000677416.1:n.867G>A
ENST00000677475.1:n.2793G>A
ENST00000677486.1:c.*186G>A	ENSP00000503852.1:n.*186G>A
ENST00000677546.1:c.*186G>A	ENSP00000504043.1:n.*186G>A
ENST00000677709.1:n.867G>A
ENST00000678011.1:n.867G>A
ENST00000678211.1:n.2891G>A
ENST00000678432.1:c.*461G>A	ENSP00000504452.1:n.*461G>A
ENST00000678463.1:c.842G>A	ENSP00000502984.1:p.Arg281Gln
ENST00000678481.1:n.643G>A
ENST00000678568.1:c.*249G>A	ENSP00000504754.1:n.*249G>A
ENST00000678641.1:c.*186G>A	ENSP00000503159.1:n.*186G>A
ENST00000678928.1:n.2469G>A
ENST00000679081.1:n.2858G>A
ENST00000313863.10:c.842G>A	ENSP00000316631.6:p.Arg281Gln
ENST00000393119.6:c.842G>A	ENSP00000376827.2:p.Arg281Gln
ENST00000393120.6:c.*249G>A	ENSP00000376828.2:n.*249G>A
ENST00000537529.6:c.812G>A	ENSP00000442096.2:p.Arg271Gln
ENST00000577824.5:c.319G>A
ENST00000581761.5:c.*249G>A	ENSP00000462129.1:n.*249G>A
ENST00000585134.1:c.65G>A	ENSP00000463826.1:p.Arg22Gln
NM_001165927.1:c.812G>A , LRG_687t2:c.812G>A	NP_001159399.1:p.Arg271Gln
NM_017777.3:c.842G>A , LRG_687t1:c.842G>A	NP_060247.2:p.Arg281Gln
XM_005257483.3:c.842G>A	XP_005257540.1:p.Arg281Gln
XM_005257485.3:c.413G>A	XP_005257542.1:p.Arg138Gln
XM_005257486.3:c.233G>A	XP_005257543.1:p.Arg78Gln
XM_006721965.2:c.233G>A	XP_006722028.1:p.Arg78Gln
XM_011524957.1:c.851G>A	XP_011523259.1:p.Arg284Gln
XM_011524958.1:c.851G>A	XP_011523260.1:p.Arg284Gln
XM_011524959.1:c.851G>A	XP_011523261.1:p.Arg284Gln
XM_011524960.1:c.851G>A	XP_011523262.1:p.Arg284Gln
XR_934494.1:n.899G>A
NM_001321268.1:c.233G>A	NP_001308197.1:p.Arg78Gln
NM_001321269.1:c.842G>A	NP_001308198.1:p.Arg281Gln
NM_001330397.1:c.842G>A	NP_001317326.1:p.Arg281Gln
XM_005257485.4:c.413G>A	XP_005257542.1:p.Arg138Gln
XM_006721965.3:c.233G>A	XP_006722028.1:p.Arg78Gln
XM_011524957.2:c.851G>A	XP_011523259.1:p.Arg284Gln
XM_011524958.2:c.851G>A	XP_011523260.1:p.Arg284Gln
XM_011524959.2:c.851G>A	XP_011523261.1:p.Arg284Gln
XM_011524960.2:c.851G>A	XP_011523262.1:p.Arg284Gln
XM_017024804.2:c.842G>A	XP_016880293.1:p.Arg281Gln
XM_017024805.1:c.413G>A	XP_016880294.1:p.Arg138Gln
XR_002958042.1:n.896G>A
NM_001321268.2:c.233G>A	NP_001308197.1:p.Arg78Gln
NM_001321269.2:c.842G>A	NP_001308198.1:p.Arg281Gln
NM_001330397.2:c.842G>A	NP_001317326.1:p.Arg281Gln
NM_017777.4:c.842G>A MANE Select	NP_060247.2:p.Arg281Gln