Canonical Allele Identifier: CA400324328

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283531T>G (hg19) ; chr17:g.58206170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206170T>G , CM000679.2:g.58206170T>G	GRCh38
NC_000017.10:g.56283531T>G , CM000679.1:g.56283531T>G	GRCh37
NC_000017.9:g.53638530T>G	NCBI36
NG_013020.1:g.18443T>G
NG_013032.1:g.18436A>C , LRG_687:g.18436A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*1A>C	ENSP00000316631.6:n.*1A>C
ENST00000393119.7:c.1589A>C MANE Select	ENSP00000376827.2:p.Glu530Ala
ENST00000537529.7:c.1160A>C	ENSP00000442096.3:p.Glu387Ala
ENST00000675753.2:c.*1208A>C	ENSP00000502156.1:n.*1208A>C
ENST00000676787.1:c.1460A>C	ENSP00000503999.1:p.Glu487Ala
ENST00000677111.1:c.*1063A>C	ENSP00000504282.1:n.*1063A>C
ENST00000677160.1:n.2863A>C
ENST00000677416.1:n.2910A>C
ENST00000677486.1:c.*933A>C	ENSP00000503852.1:n.*933A>C
ENST00000677709.1:n.2289A>C
ENST00000678011.1:n.2489A>C
ENST00000678432.1:c.*1363A>C	ENSP00000504452.1:n.*1363A>C
ENST00000678463.1:c.1506A>C	ENSP00000502984.1:p.Arg502Ser
ENST00000678568.1:c.*913A>C	ENSP00000504754.1:n.*913A>C
ENST00000678641.1:c.*933A>C	ENSP00000503159.1:n.*933A>C
ENST00000678763.1:n.1904A>C
ENST00000313863.10:c.*1A>C	ENSP00000316631.6:n.*1A>C
ENST00000393119.6:c.1589A>C	ENSP00000376827.2:p.Glu530Ala
ENST00000393120.6:c.*996A>C	ENSP00000376828.2:n.*996A>C
ENST00000537529.6:c.1559A>C	ENSP00000442096.2:p.Glu520Ala
ENST00000583577.1:n.415A>C
NM_001165927.1:c.1559A>C , LRG_687t2:c.1559A>C	NP_001159399.1:p.Glu520Ala
NM_017777.3:c.1589A>C , LRG_687t1:c.1589A>C	NP_060247.2:p.Glu530Ala
XM_005257483.3:c.1506A>C	XP_005257540.1:p.Arg502Ser
XM_005257485.3:c.1077A>C	XP_005257542.1:p.Arg359Ser
XM_005257486.3:c.980A>C	XP_005257543.1:p.Glu327Ala
XM_006721965.2:c.897A>C	XP_006722028.1:p.Arg299Ser
XM_011524957.1:c.1515A>C	XP_011523259.1:p.Arg505Ser
XM_011524958.1:c.1598A>C	XP_011523260.1:p.Glu533Ala
XM_011524959.1:c.*1A>C	XP_011523261.1:n.*1A>C
NM_001321268.1:c.980A>C	NP_001308197.1:p.Glu327Ala
NM_001321269.1:c.1506A>C	NP_001308198.1:p.Arg502Ser
NM_001330397.1:c.*1A>C	NP_001317326.1:n.*1A>C
XM_005257485.4:c.1077A>C	XP_005257542.1:p.Arg359Ser
XM_006721965.3:c.897A>C	XP_006722028.1:p.Arg299Ser
XM_011524957.2:c.1515A>C	XP_011523259.1:p.Arg505Ser
XM_011524958.2:c.1598A>C	XP_011523260.1:p.Glu533Ala
XM_011524959.2:c.*1A>C	XP_011523261.1:n.*1A>C
XM_017024805.1:c.1160A>C	XP_016880294.1:p.Glu387Ala
XR_002958042.1:n.1517A>C
NM_001321268.2:c.980A>C	NP_001308197.1:p.Glu327Ala
NM_001321269.2:c.1506A>C	NP_001308198.1:p.Arg502Ser
NM_001330397.2:c.*1A>C	NP_001317326.1:n.*1A>C
NM_017777.4:c.1589A>C MANE Select	NP_060247.2:p.Glu530Ala