Canonical Allele Identifier: CA2842941071

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58205998A>T , CM000679.2:g.58205998A>T	GRCh38
NC_000017.10:g.56283359A>T , CM000679.1:g.56283359A>T	GRCh37
NC_000017.9:g.53638358A>T	NCBI36
NG_013020.1:g.18271A>T
NG_013032.1:g.18608T>A , LRG_687:g.18608T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*173T>A	ENSP00000316631.6:n.*173T>A
ENST00000393119.7:c.*81T>A MANE Select	ENSP00000376827.2:n.*81T>A
ENST00000537529.7:c.*81T>A	ENSP00000442096.3:n.*81T>A
ENST00000675753.2:c.*1380T>A	ENSP00000502156.1:n.*1380T>A
ENST00000676787.1:c.*81T>A	ENSP00000503999.1:n.*81T>A
ENST00000677111.1:c.*1235T>A	ENSP00000504282.1:n.*1235T>A
ENST00000677160.1:n.3035T>A
ENST00000677416.1:n.3082T>A
ENST00000677486.1:c.*1105T>A	ENSP00000503852.1:n.*1105T>A
ENST00000677709.1:n.2461T>A
ENST00000678011.1:n.2661T>A
ENST00000678432.1:c.*1535T>A	ENSP00000504452.1:n.*1535T>A
ENST00000678463.1:c.1678T>A	ENSP00000502984.1:p.Ser560Thr
ENST00000678568.1:c.*1085T>A	ENSP00000504754.1:n.*1085T>A
ENST00000678641.1:c.*1105T>A	ENSP00000503159.1:n.*1105T>A
ENST00000678763.1:n.2076T>A
ENST00000313863.10:c.*173T>A	ENSP00000316631.6:n.*173T>A
ENST00000393119.6:c.*81T>A	ENSP00000376827.2:n.*81T>A
ENST00000393120.6:c.*1168T>A	ENSP00000376828.2:n.*1168T>A
ENST00000537529.6:c.*81T>A	ENSP00000442096.2:n.*81T>A
ENST00000583577.1:n.587T>A
NM_001165927.1:c.*81T>A , LRG_687t2:c.*81T>A	NP_001159399.1:n.*81T>A
NM_017777.3:c.*81T>A , LRG_687t1:c.*81T>A	NP_060247.2:n.*81T>A
XM_005257483.3:c.1678T>A	XP_005257540.1:p.Ser560Thr
XM_005257485.3:c.1249T>A	XP_005257542.1:p.Ser417Thr
XM_005257486.3:c.*81T>A	XP_005257543.1:n.*81T>A
XM_006721965.2:c.1069T>A	XP_006722028.1:p.Ser357Thr
XM_011524957.1:c.1687T>A	XP_011523259.1:p.Ser563Thr
XM_011524958.1:c.*81T>A	XP_011523260.1:n.*81T>A
XM_011524959.1:c.*173T>A	XP_011523261.1:n.*173T>A
NM_001321268.1:c.*81T>A	NP_001308197.1:n.*81T>A
NM_001321269.1:c.1678T>A	NP_001308198.1:p.Ser560Thr
NM_001330397.1:c.*173T>A	NP_001317326.1:n.*173T>A
XM_005257485.4:c.1249T>A	XP_005257542.1:p.Ser417Thr
XM_006721965.3:c.1069T>A	XP_006722028.1:p.Ser357Thr
XM_011524957.2:c.1687T>A	XP_011523259.1:p.Ser563Thr
XM_011524958.2:c.*81T>A	XP_011523260.1:n.*81T>A
XM_011524959.2:c.*173T>A	XP_011523261.1:n.*173T>A
XM_017024805.1:c.*81T>A	XP_016880294.1:n.*81T>A
XR_002958042.1:n.1689T>A
NM_001321268.2:c.*81T>A	NP_001308197.1:n.*81T>A
NM_001321269.2:c.1678T>A	NP_001308198.1:p.Ser560Thr
NM_001330397.2:c.*173T>A	NP_001317326.1:n.*173T>A
NM_017777.4:c.*81T>A MANE Select	NP_060247.2:n.*81T>A