Canonical Allele Identifier: CA292008166

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207105G>C , CM000679.2:g.58207105G>C	GRCh38
NC_000017.10:g.56284466G>C , CM000679.1:g.56284466G>C	GRCh37
NC_000017.9:g.53639465G>C	NCBI36
NG_013020.1:g.19378G>C
NG_013032.1:g.17501C>G , LRG_687:g.17501C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1387C>G MANE Select	NP_060247.2:p.Arg463Gly
ENST00000393119.7:c.1387C>G MANE Select	ENSP00000376827.2:p.Arg463Gly
NM_001165927.1:c.1357C>G , LRG_687t2:c.1357C>G	NP_001159399.1:p.Arg453Gly
NM_001321268.1:c.778C>G	NP_001308197.1:p.Arg260Gly
NM_001321268.2:c.778C>G	NP_001308197.1:p.Arg260Gly
NM_001321269.1:c.1387C>G	NP_001308198.1:p.Arg463Gly
NM_001321269.2:c.1387C>G	NP_001308198.1:p.Arg463Gly
NM_001330397.1:c.1274-725C>G	NP_001317326.1:n.1274-725C>G
NM_001330397.2:c.1274-725C>G	NP_001317326.1:n.1274-725C>G
NM_017777.3:c.1387C>G , LRG_687t1:c.1387C>G	NP_060247.2:p.Arg463Gly
ENST00000313863.10:c.1274-725C>G	ENSP00000316631.6:n.1274-725C>G
ENST00000313863.11:c.1274-725C>G	ENSP00000316631.6:n.1274-725C>G
ENST00000393119.6:c.1387C>G	ENSP00000376827.2:p.Arg463Gly
ENST00000393120.6:c.*794C>G	ENSP00000376828.2:n.*794C>G
ENST00000537529.6:c.1357C>G	ENSP00000442096.2:p.Arg453Gly
ENST00000537529.7:c.958C>G	ENSP00000442096.3:p.Arg320Gly
ENST00000675753.2:c.*1006C>G	ENSP00000502156.1:n.*1006C>G
ENST00000676787.1:c.1258C>G	ENSP00000503999.1:p.Arg420Gly
ENST00000677111.1:c.*324C>G	ENSP00000504282.1:n.*324C>G
ENST00000677160.1:n.2661C>G
ENST00000677416.1:n.2087C>G
ENST00000677486.1:c.*731C>G	ENSP00000503852.1:n.*731C>G
ENST00000677709.1:n.2087C>G
ENST00000678011.1:n.1750C>G
ENST00000678432.1:c.*1161C>G	ENSP00000504452.1:n.*1161C>G
ENST00000678463.1:c.1387C>G	ENSP00000502984.1:p.Arg463Gly
ENST00000678568.1:c.*794C>G	ENSP00000504754.1:n.*794C>G
ENST00000678641.1:c.*731C>G	ENSP00000503159.1:n.*731C>G
ENST00000678763.1:n.1165C>G
XM_005257483.3:c.1387C>G	XP_005257540.1:p.Arg463Gly
XM_005257485.3:c.958C>G	XP_005257542.1:p.Arg320Gly
XM_005257485.4:c.958C>G	XP_005257542.1:p.Arg320Gly
XM_005257486.3:c.778C>G	XP_005257543.1:p.Arg260Gly
XM_006721965.2:c.778C>G	XP_006722028.1:p.Arg260Gly
XM_006721965.3:c.778C>G	XP_006722028.1:p.Arg260Gly
XM_011524957.1:c.1396C>G	XP_011523259.1:p.Arg466Gly
XM_011524957.2:c.1396C>G	XP_011523259.1:p.Arg466Gly
XM_011524958.1:c.1396C>G	XP_011523260.1:p.Arg466Gly
XM_011524958.2:c.1396C>G	XP_011523260.1:p.Arg466Gly
XM_011524959.1:c.1283-725C>G	XP_011523261.1:n.1283-725C>G
XM_011524959.2:c.1283-725C>G	XP_011523261.1:n.1283-725C>G
XM_017024805.1:c.958C>G	XP_016880294.1:p.Arg320Gly
XR_002958042.1:n.1398C>G