Canonical Allele Identifier: CA400325769

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58208175C>G , CM000679.2:g.58208175C>G	GRCh38
NC_000017.10:g.56285536C>G , CM000679.1:g.56285536C>G	GRCh37
NC_000017.9:g.53640535C>G	NCBI36
NG_013032.1:g.16431G>C , LRG_687:g.16431G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1096-1G>C MANE Select	NP_060247.2:n.1096-1G>C
ENST00000393119.7:c.1096-1G>C MANE Select	ENSP00000376827.2:n.1096-1G>C
NM_001165927.1:c.1066-1G>C , LRG_687t2:c.1066-1G>C	NP_001159399.1:n.1066-1G>C
NM_001321268.1:c.487-1G>C	NP_001308197.1:n.487-1G>C
NM_001321268.2:c.487-1G>C	NP_001308197.1:n.487-1G>C
NM_001321269.1:c.1096-1G>C	NP_001308198.1:n.1096-1G>C
NM_001321269.2:c.1096-1G>C	NP_001308198.1:n.1096-1G>C
NM_001330397.1:c.1096-1G>C	NP_001317326.1:n.1096-1G>C
NM_001330397.2:c.1096-1G>C	NP_001317326.1:n.1096-1G>C
NM_017777.3:c.1096-1G>C , LRG_687t1:c.1096-1G>C	NP_060247.2:n.1096-1G>C
ENST00000313863.10:c.1096-1G>C	ENSP00000316631.6:n.1096-1G>C
ENST00000313863.11:c.1096-1G>C	ENSP00000316631.6:n.1096-1G>C
ENST00000393119.6:c.1096-1G>C	ENSP00000376827.2:n.1096-1G>C
ENST00000393120.6:c.*503-1G>C	ENSP00000376828.2:n.*503-1G>C
ENST00000537529.6:c.1066-1G>C	ENSP00000442096.2:n.1066-1G>C
ENST00000537529.7:c.667-1G>C	ENSP00000442096.3:n.667-1G>C
ENST00000577315.5:c.149-1G>C
ENST00000577824.5:c.648G>C
ENST00000579358.1:n.534-1G>C
ENST00000580127.6:c.1096-1G>C	ENSP00000462423.2:n.1096-1G>C
ENST00000585134.1:c.319-1G>C	ENSP00000463826.1:n.319-1G>C
ENST00000585134.2:c.1096-1G>C	ENSP00000463826.2:n.1096-1G>C
ENST00000675753.2:c.*715-1G>C	ENSP00000502156.1:n.*715-1G>C
ENST00000676787.1:c.967-1G>C	ENSP00000503999.1:n.967-1G>C
ENST00000677111.1:c.*33-1G>C	ENSP00000504282.1:n.*33-1G>C
ENST00000677160.1:n.2370-1G>C
ENST00000677416.1:n.1121-1G>C
ENST00000677486.1:c.*440-1G>C	ENSP00000503852.1:n.*440-1G>C
ENST00000677709.1:n.1121-1G>C
ENST00000678011.1:n.1458G>C
ENST00000678432.1:c.*715-1G>C	ENSP00000504452.1:n.*715-1G>C
ENST00000678463.1:c.1096-1G>C	ENSP00000502984.1:n.1096-1G>C
ENST00000678568.1:c.*503-1G>C	ENSP00000504754.1:n.*503-1G>C
ENST00000678641.1:c.*440-1G>C	ENSP00000503159.1:n.*440-1G>C
ENST00000678763.1:n.874-1G>C
XM_005257483.3:c.1096-1G>C	XP_005257540.1:n.1096-1G>C
XM_005257485.3:c.667-1G>C	XP_005257542.1:n.667-1G>C
XM_005257485.4:c.667-1G>C	XP_005257542.1:n.667-1G>C
XM_005257486.3:c.487-1G>C	XP_005257543.1:n.487-1G>C
XM_006721965.2:c.487-1G>C	XP_006722028.1:n.487-1G>C
XM_006721965.3:c.487-1G>C	XP_006722028.1:n.487-1G>C
XM_011524957.1:c.1105-1G>C	XP_011523259.1:n.1105-1G>C
XM_011524957.2:c.1105-1G>C	XP_011523259.1:n.1105-1G>C
XM_011524958.1:c.1105-1G>C	XP_011523260.1:n.1105-1G>C
XM_011524958.2:c.1105-1G>C	XP_011523260.1:n.1105-1G>C
XM_011524959.1:c.1105-1G>C	XP_011523261.1:n.1105-1G>C
XM_011524959.2:c.1105-1G>C	XP_011523261.1:n.1105-1G>C
XM_011524960.1:c.1105-1G>C	XP_011523262.1:n.1105-1G>C
XM_011524960.2:c.1105-1G>C	XP_011523262.1:n.1105-1G>C
XM_017024804.2:c.1096-1G>C	XP_016880293.1:n.1096-1G>C
XM_017024805.1:c.667-1G>C	XP_016880294.1:n.667-1G>C
XR_002958042.1:n.1107-1G>C
XR_934494.1:n.1110-1G>C