Canonical Allele Identifier: CA400324634

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206472G>A , CM000679.2:g.58206472G>A	GRCh38
NC_000017.10:g.56283833G>A , CM000679.1:g.56283833G>A	GRCh37
NC_000017.9:g.53638832G>A	NCBI36
NG_013020.1:g.18745G>A
NG_013032.1:g.18134C>T , LRG_687:g.18134C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1483C>T MANE Select	NP_060247.2:p.Gln495Ter
ENST00000393119.7:c.1483C>T MANE Select	ENSP00000376827.2:p.Gln495Ter
NM_001165927.1:c.1453C>T , LRG_687t2:c.1453C>T	NP_001159399.1:p.Gln485Ter
NM_001321268.1:c.874C>T	NP_001308197.1:p.Gln292Ter
NM_001321268.2:c.874C>T	NP_001308197.1:p.Gln292Ter
NM_001321269.1:c.1408-92C>T	NP_001308198.1:n.1408-92C>T
NM_001321269.2:c.1408-92C>T	NP_001308198.1:n.1408-92C>T
NM_001330397.1:c.1274-92C>T	NP_001317326.1:n.1274-92C>T
NM_001330397.2:c.1274-92C>T	NP_001317326.1:n.1274-92C>T
NM_017777.3:c.1483C>T , LRG_687t1:c.1483C>T	NP_060247.2:p.Gln495Ter
ENST00000313863.10:c.1274-92C>T	ENSP00000316631.6:n.1274-92C>T
ENST00000313863.11:c.1274-92C>T	ENSP00000316631.6:n.1274-92C>T
ENST00000393119.6:c.1483C>T	ENSP00000376827.2:p.Gln495Ter
ENST00000393120.6:c.*890C>T	ENSP00000376828.2:n.*890C>T
ENST00000537529.6:c.1453C>T	ENSP00000442096.2:p.Gln485Ter
ENST00000537529.7:c.1054C>T	ENSP00000442096.3:p.Gln352Ter
ENST00000583577.1:n.309C>T
ENST00000675753.2:c.*1102C>T	ENSP00000502156.1:n.*1102C>T
ENST00000676787.1:c.1354C>T	ENSP00000503999.1:p.Gln452Ter
ENST00000677111.1:c.*957C>T	ENSP00000504282.1:n.*957C>T
ENST00000677160.1:n.2757C>T
ENST00000677416.1:n.2720C>T
ENST00000677486.1:c.*827C>T	ENSP00000503852.1:n.*827C>T
ENST00000677709.1:n.2183C>T
ENST00000678011.1:n.2383C>T
ENST00000678432.1:c.*1257C>T	ENSP00000504452.1:n.*1257C>T
ENST00000678463.1:c.1408-92C>T	ENSP00000502984.1:n.1408-92C>T
ENST00000678568.1:c.*815-92C>T	ENSP00000504754.1:n.*815-92C>T
ENST00000678641.1:c.*827C>T	ENSP00000503159.1:n.*827C>T
ENST00000678763.1:n.1798C>T
XM_005257483.3:c.1408-92C>T	XP_005257540.1:n.1408-92C>T
XM_005257485.3:c.979-92C>T	XP_005257542.1:n.979-92C>T
XM_005257485.4:c.979-92C>T	XP_005257542.1:n.979-92C>T
XM_005257486.3:c.874C>T	XP_005257543.1:p.Gln292Ter
XM_006721965.2:c.799-92C>T	XP_006722028.1:n.799-92C>T
XM_006721965.3:c.799-92C>T	XP_006722028.1:n.799-92C>T
XM_011524957.1:c.1417-92C>T	XP_011523259.1:n.1417-92C>T
XM_011524957.2:c.1417-92C>T	XP_011523259.1:n.1417-92C>T
XM_011524958.1:c.1492C>T	XP_011523260.1:p.Gln498Ter
XM_011524958.2:c.1492C>T	XP_011523260.1:p.Gln498Ter
XM_011524959.1:c.1283-92C>T	XP_011523261.1:n.1283-92C>T
XM_011524959.2:c.1283-92C>T	XP_011523261.1:n.1283-92C>T
XM_017024805.1:c.1054C>T	XP_016880294.1:p.Gln352Ter
XR_002958042.1:n.1419-92C>T