Canonical Allele Identifier: CA8669050

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206106C>G , CM000679.2:g.58206106C>G	GRCh38
NC_000017.10:g.56283467C>G , CM000679.1:g.56283467C>G	GRCh37
NC_000017.9:g.53638466C>G	NCBI36
NG_013020.1:g.18379C>G
NG_013032.1:g.18500G>C , LRG_687:g.18500G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1653G>C MANE Select	NP_060247.2:p.Val551=
ENST00000393119.7:c.1653G>C MANE Select	ENSP00000376827.2:p.Val551=
NM_001165927.1:c.1623G>C , LRG_687t2:c.1623G>C	NP_001159399.1:p.Val541=
NM_001321268.1:c.1044G>C	NP_001308197.1:p.Val348=
NM_001321268.2:c.1044G>C	NP_001308197.1:p.Val348=
NM_001321269.1:c.1570G>C	NP_001308198.1:p.Glu524Gln
NM_001321269.2:c.1570G>C	NP_001308198.1:p.Glu524Gln
NM_001330397.1:c.*65G>C	NP_001317326.1:n.*65G>C
NM_001330397.2:c.*65G>C	NP_001317326.1:n.*65G>C
NM_017777.3:c.1653G>C , LRG_687t1:c.1653G>C	NP_060247.2:p.Val551=
ENST00000313863.10:c.*65G>C	ENSP00000316631.6:n.*65G>C
ENST00000313863.11:c.*65G>C	ENSP00000316631.6:n.*65G>C
ENST00000393119.6:c.1653G>C	ENSP00000376827.2:p.Val551=
ENST00000393120.6:c.*1060G>C	ENSP00000376828.2:n.*1060G>C
ENST00000537529.6:c.1623G>C	ENSP00000442096.2:p.Val541=
ENST00000537529.7:c.1224G>C	ENSP00000442096.3:p.Val408=
ENST00000583577.1:n.479G>C
ENST00000675753.2:c.*1272G>C	ENSP00000502156.1:n.*1272G>C
ENST00000676787.1:c.1524G>C	ENSP00000503999.1:p.Val508=
ENST00000677111.1:c.*1127G>C	ENSP00000504282.1:n.*1127G>C
ENST00000677160.1:n.2927G>C
ENST00000677416.1:n.2974G>C
ENST00000677486.1:c.*997G>C	ENSP00000503852.1:n.*997G>C
ENST00000677709.1:n.2353G>C
ENST00000678011.1:n.2553G>C
ENST00000678432.1:c.*1427G>C	ENSP00000504452.1:n.*1427G>C
ENST00000678463.1:c.1570G>C	ENSP00000502984.1:p.Glu524Gln
ENST00000678568.1:c.*977G>C	ENSP00000504754.1:n.*977G>C
ENST00000678641.1:c.*997G>C	ENSP00000503159.1:n.*997G>C
ENST00000678763.1:n.1968G>C
XM_005257483.3:c.1570G>C	XP_005257540.1:p.Glu524Gln
XM_005257485.3:c.1141G>C	XP_005257542.1:p.Glu381Gln
XM_005257485.4:c.1141G>C	XP_005257542.1:p.Glu381Gln
XM_005257486.3:c.1044G>C	XP_005257543.1:p.Val348=
XM_006721965.2:c.961G>C	XP_006722028.1:p.Glu321Gln
XM_006721965.3:c.961G>C	XP_006722028.1:p.Glu321Gln
XM_011524957.1:c.1579G>C	XP_011523259.1:p.Glu527Gln
XM_011524957.2:c.1579G>C	XP_011523259.1:p.Glu527Gln
XM_011524958.1:c.1662G>C	XP_011523260.1:p.Val554=
XM_011524958.2:c.1662G>C	XP_011523260.1:p.Val554=
XM_011524959.1:c.*65G>C	XP_011523261.1:n.*65G>C
XM_011524959.2:c.*65G>C	XP_011523261.1:n.*65G>C
XM_017024805.1:c.1224G>C	XP_016880294.1:p.Val408=
XR_002958042.1:n.1581G>C