Canonical Allele Identifier: CA2842941073

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206024G>T , CM000679.2:g.58206024G>T	GRCh38
NC_000017.10:g.56283385G>T , CM000679.1:g.56283385G>T	GRCh37
NC_000017.9:g.53638384G>T	NCBI36
NG_013020.1:g.18297G>T
NG_013032.1:g.18582C>A , LRG_687:g.18582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*147C>A	ENSP00000316631.6:n.*147C>A
ENST00000393119.7:c.*55C>A MANE Select	ENSP00000376827.2:n.*55C>A
ENST00000537529.7:c.*55C>A	ENSP00000442096.3:n.*55C>A
ENST00000675753.2:c.*1354C>A	ENSP00000502156.1:n.*1354C>A
ENST00000676787.1:c.*55C>A	ENSP00000503999.1:n.*55C>A
ENST00000677111.1:c.*1209C>A	ENSP00000504282.1:n.*1209C>A
ENST00000677160.1:n.3009C>A
ENST00000677416.1:n.3056C>A
ENST00000677486.1:c.*1079C>A	ENSP00000503852.1:n.*1079C>A
ENST00000677709.1:n.2435C>A
ENST00000678011.1:n.2635C>A
ENST00000678432.1:c.*1509C>A	ENSP00000504452.1:n.*1509C>A
ENST00000678463.1:c.1652C>A	ENSP00000502984.1:p.Ala551Asp
ENST00000678568.1:c.*1059C>A	ENSP00000504754.1:n.*1059C>A
ENST00000678641.1:c.*1079C>A	ENSP00000503159.1:n.*1079C>A
ENST00000678763.1:n.2050C>A
ENST00000313863.10:c.*147C>A	ENSP00000316631.6:n.*147C>A
ENST00000393119.6:c.*55C>A	ENSP00000376827.2:n.*55C>A
ENST00000393120.6:c.*1142C>A	ENSP00000376828.2:n.*1142C>A
ENST00000537529.6:c.*55C>A	ENSP00000442096.2:n.*55C>A
ENST00000583577.1:n.561C>A
NM_001165927.1:c.*55C>A , LRG_687t2:c.*55C>A	NP_001159399.1:n.*55C>A
NM_017777.3:c.*55C>A , LRG_687t1:c.*55C>A	NP_060247.2:n.*55C>A
XM_005257483.3:c.1652C>A	XP_005257540.1:p.Ala551Asp
XM_005257485.3:c.1223C>A	XP_005257542.1:p.Ala408Asp
XM_005257486.3:c.*55C>A	XP_005257543.1:n.*55C>A
XM_006721965.2:c.1043C>A	XP_006722028.1:p.Ala348Asp
XM_011524957.1:c.1661C>A	XP_011523259.1:p.Ala554Asp
XM_011524958.1:c.*55C>A	XP_011523260.1:n.*55C>A
XM_011524959.1:c.*147C>A	XP_011523261.1:n.*147C>A
NM_001321268.1:c.*55C>A	NP_001308197.1:n.*55C>A
NM_001321269.1:c.1652C>A	NP_001308198.1:p.Ala551Asp
NM_001330397.1:c.*147C>A	NP_001317326.1:n.*147C>A
XM_005257485.4:c.1223C>A	XP_005257542.1:p.Ala408Asp
XM_006721965.3:c.1043C>A	XP_006722028.1:p.Ala348Asp
XM_011524957.2:c.1661C>A	XP_011523259.1:p.Ala554Asp
XM_011524958.2:c.*55C>A	XP_011523260.1:n.*55C>A
XM_011524959.2:c.*147C>A	XP_011523261.1:n.*147C>A
XM_017024805.1:c.*55C>A	XP_016880294.1:n.*55C>A
XR_002958042.1:n.1663C>A
NM_001321268.2:c.*55C>A	NP_001308197.1:n.*55C>A
NM_001321269.2:c.1652C>A	NP_001308198.1:p.Ala551Asp
NM_001330397.2:c.*147C>A	NP_001317326.1:n.*147C>A
NM_017777.4:c.*55C>A MANE Select	NP_060247.2:n.*55C>A