Canonical Allele Identifier: CA400326491

Gene: MKS1

Linked Data

• dbSNP Id: rs1182924920
• gnomAD v3: 17-58213061-A-G
• gnomAD v4: 17-58213061-A-G
• MyVariant Identifiers: chr17:g.56290422A>G (hg19) ; chr17:g.58213061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213061A>G , CM000679.2:g.58213061A>G	GRCh38
NC_000017.10:g.56290422A>G , CM000679.1:g.56290422A>G	GRCh37
NC_000017.9:g.53645421A>G	NCBI36
NG_013032.1:g.11545T>C , LRG_687:g.11545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.779T>C	ENSP00000316631.6:p.Leu260Pro
ENST00000393119.7:c.779T>C MANE Select	ENSP00000376827.2:p.Leu260Pro
ENST00000537529.7:c.350T>C	ENSP00000442096.3:p.Leu117Pro
ENST00000580127.6:c.779T>C	ENSP00000462423.2:p.Leu260Pro
ENST00000581761.6:c.779T>C	ENSP00000462129.2:p.Leu260Pro
ENST00000585134.2:c.779T>C	ENSP00000463826.2:p.Leu260Pro
ENST00000675753.2:c.*398T>C	ENSP00000502156.1:n.*398T>C
ENST00000676787.1:c.650T>C	ENSP00000503999.1:p.Leu217Pro
ENST00000676975.1:c.644T>C	ENSP00000503970.1:n.644T>C
ENST00000677076.1:n.2053T>C
ENST00000677111.1:c.779T>C	ENSP00000504282.1:p.Leu260Pro
ENST00000677160.1:n.2053T>C
ENST00000677416.1:n.804T>C
ENST00000677475.1:n.2730T>C
ENST00000677486.1:c.*123T>C	ENSP00000503852.1:n.*123T>C
ENST00000677546.1:c.*123T>C	ENSP00000504043.1:n.*123T>C
ENST00000677709.1:n.804T>C
ENST00000678011.1:n.804T>C
ENST00000678211.1:n.2828T>C
ENST00000678432.1:c.*398T>C	ENSP00000504452.1:n.*398T>C
ENST00000678463.1:c.779T>C	ENSP00000502984.1:p.Leu260Pro
ENST00000678481.1:n.580T>C
ENST00000678568.1:c.*186T>C	ENSP00000504754.1:n.*186T>C
ENST00000678641.1:c.*123T>C	ENSP00000503159.1:n.*123T>C
ENST00000678928.1:n.2406T>C
ENST00000679081.1:n.2795T>C
ENST00000313863.10:c.779T>C	ENSP00000316631.6:p.Leu260Pro
ENST00000393119.6:c.779T>C	ENSP00000376827.2:p.Leu260Pro
ENST00000393120.6:c.*186T>C	ENSP00000376828.2:n.*186T>C
ENST00000537529.6:c.749T>C	ENSP00000442096.2:p.Leu250Pro
ENST00000577824.5:c.256T>C
ENST00000581761.5:c.*186T>C	ENSP00000462129.1:n.*186T>C
ENST00000585134.1:c.2T>C	ENSP00000463826.1:p.Leu1Pro
NM_001165927.1:c.749T>C , LRG_687t2:c.749T>C	NP_001159399.1:p.Leu250Pro
NM_017777.3:c.779T>C , LRG_687t1:c.779T>C	NP_060247.2:p.Leu260Pro
XM_005257483.3:c.779T>C	XP_005257540.1:p.Leu260Pro
XM_005257485.3:c.350T>C	XP_005257542.1:p.Leu117Pro
XM_005257486.3:c.170T>C	XP_005257543.1:p.Leu57Pro
XM_006721965.2:c.170T>C	XP_006722028.1:p.Leu57Pro
XM_011524957.1:c.788T>C	XP_011523259.1:p.Leu263Pro
XM_011524958.1:c.788T>C	XP_011523260.1:p.Leu263Pro
XM_011524959.1:c.788T>C	XP_011523261.1:p.Leu263Pro
XM_011524960.1:c.788T>C	XP_011523262.1:p.Leu263Pro
XR_934494.1:n.836T>C
NM_001321268.1:c.170T>C	NP_001308197.1:p.Leu57Pro
NM_001321269.1:c.779T>C	NP_001308198.1:p.Leu260Pro
NM_001330397.1:c.779T>C	NP_001317326.1:p.Leu260Pro
XM_005257485.4:c.350T>C	XP_005257542.1:p.Leu117Pro
XM_006721965.3:c.170T>C	XP_006722028.1:p.Leu57Pro
XM_011524957.2:c.788T>C	XP_011523259.1:p.Leu263Pro
XM_011524958.2:c.788T>C	XP_011523260.1:p.Leu263Pro
XM_011524959.2:c.788T>C	XP_011523261.1:p.Leu263Pro
XM_011524960.2:c.788T>C	XP_011523262.1:p.Leu263Pro
XM_017024804.2:c.779T>C	XP_016880293.1:p.Leu260Pro
XM_017024805.1:c.350T>C	XP_016880294.1:p.Leu117Pro
XR_002958042.1:n.833T>C
NM_001321268.2:c.170T>C	NP_001308197.1:p.Leu57Pro
NM_001321269.2:c.779T>C	NP_001308198.1:p.Leu260Pro
NM_001330397.2:c.779T>C	NP_001317326.1:p.Leu260Pro
NM_017777.4:c.779T>C MANE Select	NP_060247.2:p.Leu260Pro