Canonical Allele Identifier: CA400326114

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58210989C>A , CM000679.2:g.58210989C>A	GRCh38
NC_000017.10:g.56288350C>A , CM000679.1:g.56288350C>A	GRCh37
NC_000017.9:g.53643349C>A	NCBI36
NG_013032.1:g.13617G>T , LRG_687:g.13617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.949G>T	ENSP00000316631.6:p.Gly317Ter
ENST00000393119.7:c.949G>T MANE Select	ENSP00000376827.2:p.Gly317Ter
ENST00000537529.7:c.520G>T	ENSP00000442096.3:p.Gly174Ter
ENST00000580127.6:c.949G>T	ENSP00000462423.2:p.Gly317Ter
ENST00000581761.6:c.949G>T	ENSP00000462129.2:p.Gly317Ter
ENST00000585134.2:c.949G>T	ENSP00000463826.2:p.Gly317Ter
ENST00000675753.2:c.*568G>T	ENSP00000502156.1:n.*568G>T
ENST00000676787.1:c.820G>T	ENSP00000503999.1:p.Gly274Ter
ENST00000677111.1:c.915+1389G>T	ENSP00000504282.1:n.915+1389G>T
ENST00000677160.1:n.2223G>T
ENST00000677416.1:n.974G>T
ENST00000677486.1:c.*293G>T	ENSP00000503852.1:n.*293G>T
ENST00000677546.1:c.*260-265G>T	ENSP00000504043.1:n.*260-265G>T
ENST00000677709.1:n.974G>T
ENST00000678011.1:n.974G>T
ENST00000678432.1:c.*568G>T	ENSP00000504452.1:n.*568G>T
ENST00000678463.1:c.949G>T	ENSP00000502984.1:p.Gly317Ter
ENST00000678568.1:c.*356G>T	ENSP00000504754.1:n.*356G>T
ENST00000678641.1:c.*293G>T	ENSP00000503159.1:n.*293G>T
ENST00000678763.1:n.727G>T
ENST00000313863.10:c.949G>T	ENSP00000316631.6:p.Gly317Ter
ENST00000393119.6:c.949G>T	ENSP00000376827.2:p.Gly317Ter
ENST00000393120.6:c.*356G>T	ENSP00000376828.2:n.*356G>T
ENST00000537529.6:c.919G>T	ENSP00000442096.2:p.Gly307Ter
ENST00000577315.5:c.2G>T
ENST00000577824.5:c.426G>T
ENST00000579358.1:n.132G>T
ENST00000581761.5:c.*356G>T	ENSP00000462129.1:n.*356G>T
ENST00000585134.1:c.172G>T	ENSP00000463826.1:p.Gly58Ter
NM_001165927.1:c.919G>T , LRG_687t2:c.919G>T	NP_001159399.1:p.Gly307Ter
NM_017777.3:c.949G>T , LRG_687t1:c.949G>T	NP_060247.2:p.Gly317Ter
XM_005257483.3:c.949G>T	XP_005257540.1:p.Gly317Ter
XM_005257485.3:c.520G>T	XP_005257542.1:p.Gly174Ter
XM_005257486.3:c.340G>T	XP_005257543.1:p.Gly114Ter
XM_006721965.2:c.340G>T	XP_006722028.1:p.Gly114Ter
XM_011524957.1:c.958G>T	XP_011523259.1:p.Gly320Ter
XM_011524958.1:c.958G>T	XP_011523260.1:p.Gly320Ter
XM_011524959.1:c.958G>T	XP_011523261.1:p.Gly320Ter
XM_011524960.1:c.958G>T	XP_011523262.1:p.Gly320Ter
XR_934494.1:n.973-265G>T
NM_001321268.1:c.340G>T	NP_001308197.1:p.Gly114Ter
NM_001321269.1:c.949G>T	NP_001308198.1:p.Gly317Ter
NM_001330397.1:c.949G>T	NP_001317326.1:p.Gly317Ter
XM_005257485.4:c.520G>T	XP_005257542.1:p.Gly174Ter
XM_006721965.3:c.340G>T	XP_006722028.1:p.Gly114Ter
XM_011524957.2:c.958G>T	XP_011523259.1:p.Gly320Ter
XM_011524958.2:c.958G>T	XP_011523260.1:p.Gly320Ter
XM_011524959.2:c.958G>T	XP_011523261.1:p.Gly320Ter
XM_011524960.2:c.958G>T	XP_011523262.1:p.Gly320Ter
XM_017024804.2:c.949G>T	XP_016880293.1:p.Gly317Ter
XM_017024805.1:c.520G>T	XP_016880294.1:p.Gly174Ter
XR_002958042.1:n.970-265G>T
NM_001321268.2:c.340G>T	NP_001308197.1:p.Gly114Ter
NM_001321269.2:c.949G>T	NP_001308198.1:p.Gly317Ter
NM_001330397.2:c.949G>T	NP_001317326.1:p.Gly317Ter
NM_017777.4:c.949G>T MANE Select	NP_060247.2:p.Gly317Ter