Canonical Allele Identifier: CA400324157

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1501927
• ClinVar RCV Id: RCV002045040 ; RCV002509740
• dbSNP Id: rs1286667377
• gnomAD v2: 17-56283442-A-G
• gnomAD v3: 17-58206081-A-G
• gnomAD v4: 17-58206081-A-G
• MyVariant Identifiers: chr17:g.56283442A>G (hg19) ; chr17:g.58206081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206081A>G , CM000679.2:g.58206081A>G	GRCh38
NC_000017.10:g.56283442A>G , CM000679.1:g.56283442A>G	GRCh37
NC_000017.9:g.53638441A>G	NCBI36
NG_013020.1:g.18354A>G
NG_013032.1:g.18525T>C , LRG_687:g.18525T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*90T>C	ENSP00000316631.6:n.*90T>C
ENST00000393119.7:c.1678T>C MANE Select	ENSP00000376827.2:p.Ter560Gln
ENST00000537529.7:c.1249T>C	ENSP00000442096.3:p.Ter417Gln
ENST00000675753.2:c.*1297T>C	ENSP00000502156.1:n.*1297T>C
ENST00000676787.1:c.1549T>C	ENSP00000503999.1:p.Ter517Gln
ENST00000677111.1:c.*1152T>C	ENSP00000504282.1:n.*1152T>C
ENST00000677160.1:n.2952T>C
ENST00000677416.1:n.2999T>C
ENST00000677486.1:c.*1022T>C	ENSP00000503852.1:n.*1022T>C
ENST00000677709.1:n.2378T>C
ENST00000678011.1:n.2578T>C
ENST00000678432.1:c.*1452T>C	ENSP00000504452.1:n.*1452T>C
ENST00000678463.1:c.1595T>C	ENSP00000502984.1:p.Leu532Pro
ENST00000678568.1:c.*1002T>C	ENSP00000504754.1:n.*1002T>C
ENST00000678641.1:c.*1022T>C	ENSP00000503159.1:n.*1022T>C
ENST00000678763.1:n.1993T>C
ENST00000313863.10:c.*90T>C	ENSP00000316631.6:n.*90T>C
ENST00000393119.6:c.1678T>C	ENSP00000376827.2:p.Ter560Gln
ENST00000393120.6:c.*1085T>C	ENSP00000376828.2:n.*1085T>C
ENST00000537529.6:c.1648T>C	ENSP00000442096.2:p.Ter550Gln
ENST00000583577.1:n.504T>C
NM_001165927.1:c.1648T>C , LRG_687t2:c.1648T>C	NP_001159399.1:p.Ter550Gln
NM_017777.3:c.1678T>C , LRG_687t1:c.1678T>C	NP_060247.2:p.Ter560Gln
XM_005257483.3:c.1595T>C	XP_005257540.1:p.Leu532Pro
XM_005257485.3:c.1166T>C	XP_005257542.1:p.Leu389Pro
XM_005257486.3:c.1069T>C	XP_005257543.1:p.Ter357Gln
XM_006721965.2:c.986T>C	XP_006722028.1:p.Leu329Pro
XM_011524957.1:c.1604T>C	XP_011523259.1:p.Leu535Pro
XM_011524958.1:c.1687T>C	XP_011523260.1:p.Ter563Gln
XM_011524959.1:c.*90T>C	XP_011523261.1:n.*90T>C
NM_001321268.1:c.1069T>C	NP_001308197.1:p.Ter357Gln
NM_001321269.1:c.1595T>C	NP_001308198.1:p.Leu532Pro
NM_001330397.1:c.*90T>C	NP_001317326.1:n.*90T>C
XM_005257485.4:c.1166T>C	XP_005257542.1:p.Leu389Pro
XM_006721965.3:c.986T>C	XP_006722028.1:p.Leu329Pro
XM_011524957.2:c.1604T>C	XP_011523259.1:p.Leu535Pro
XM_011524958.2:c.1687T>C	XP_011523260.1:p.Ter563Gln
XM_011524959.2:c.*90T>C	XP_011523261.1:n.*90T>C
XM_017024805.1:c.1249T>C	XP_016880294.1:p.Ter417Gln
XR_002958042.1:n.1606T>C
NM_001321268.2:c.1069T>C	NP_001308197.1:p.Ter357Gln
NM_001321269.2:c.1595T>C	NP_001308198.1:p.Leu532Pro
NM_001330397.2:c.*90T>C	NP_001317326.1:n.*90T>C
NM_017777.4:c.1678T>C MANE Select	NP_060247.2:p.Ter560Gln