Canonical Allele Identifier: CA2638966134

Gene: MKS1

Linked Data

• gnomAD v4: 17-58213208-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213208A>G , CM000679.2:g.58213208A>G	GRCh38
NC_000017.10:g.56290569A>G , CM000679.1:g.56290569A>G	GRCh37
NC_000017.9:g.53645568A>G	NCBI36
NG_013032.1:g.11398T>C , LRG_687:g.11398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.750-118T>C	ENSP00000316631.6:n.750-118T>C
ENST00000393119.7:c.750-118T>C MANE Select	ENSP00000376827.2:n.750-118T>C
ENST00000537529.7:c.321-118T>C	ENSP00000442096.3:n.321-118T>C
ENST00000580127.6:c.750-118T>C	ENSP00000462423.2:n.750-118T>C
ENST00000581761.6:c.750-118T>C	ENSP00000462129.2:n.750-118T>C
ENST00000585134.2:c.750-118T>C	ENSP00000463826.2:n.750-118T>C
ENST00000675753.2:c.*369-118T>C	ENSP00000502156.1:n.*369-118T>C
ENST00000676787.1:c.621-118T>C	ENSP00000503999.1:n.621-118T>C
ENST00000676975.1:c.615-118T>C	ENSP00000503970.1:n.615-118T>C
ENST00000677076.1:n.2024-118T>C
ENST00000677111.1:c.750-118T>C	ENSP00000504282.1:n.750-118T>C
ENST00000677160.1:n.2024-118T>C
ENST00000677416.1:n.775-118T>C
ENST00000677475.1:n.2583T>C
ENST00000677486.1:c.*94-118T>C	ENSP00000503852.1:n.*94-118T>C
ENST00000677546.1:c.*94-118T>C	ENSP00000504043.1:n.*94-118T>C
ENST00000677709.1:n.775-118T>C
ENST00000678011.1:n.775-118T>C
ENST00000678211.1:n.2799-118T>C
ENST00000678432.1:c.*369-118T>C	ENSP00000504452.1:n.*369-118T>C
ENST00000678463.1:c.750-118T>C	ENSP00000502984.1:n.750-118T>C
ENST00000678481.1:n.551-118T>C
ENST00000678568.1:c.*157-118T>C	ENSP00000504754.1:n.*157-118T>C
ENST00000678641.1:c.*94-118T>C	ENSP00000503159.1:n.*94-118T>C
ENST00000678928.1:n.2377-118T>C
ENST00000679081.1:n.2766-118T>C
ENST00000313863.10:c.750-118T>C	ENSP00000316631.6:n.750-118T>C
ENST00000393119.6:c.750-118T>C	ENSP00000376827.2:n.750-118T>C
ENST00000393120.6:c.*157-118T>C	ENSP00000376828.2:n.*157-118T>C
ENST00000537529.6:c.720-118T>C	ENSP00000442096.2:n.720-118T>C
ENST00000577824.5:c.227-118T>C
ENST00000581761.5:c.*157-118T>C	ENSP00000462129.1:n.*157-118T>C
NM_001165927.1:c.720-118T>C , LRG_687t2:c.720-118T>C	NP_001159399.1:n.720-118T>C
NM_017777.3:c.750-118T>C , LRG_687t1:c.750-118T>C	NP_060247.2:n.750-118T>C
XM_005257483.3:c.750-118T>C	XP_005257540.1:n.750-118T>C
XM_005257485.3:c.321-118T>C	XP_005257542.1:n.321-118T>C
XM_005257486.3:c.141-118T>C	XP_005257543.1:n.141-118T>C
XM_006721965.2:c.141-118T>C	XP_006722028.1:n.141-118T>C
XM_011524957.1:c.759-118T>C	XP_011523259.1:n.759-118T>C
XM_011524958.1:c.759-118T>C	XP_011523260.1:n.759-118T>C
XM_011524959.1:c.759-118T>C	XP_011523261.1:n.759-118T>C
XM_011524960.1:c.759-118T>C	XP_011523262.1:n.759-118T>C
XR_934494.1:n.807-118T>C
NM_001321268.1:c.141-118T>C	NP_001308197.1:n.141-118T>C
NM_001321269.1:c.750-118T>C	NP_001308198.1:n.750-118T>C
NM_001330397.1:c.750-118T>C	NP_001317326.1:n.750-118T>C
XM_005257485.4:c.321-118T>C	XP_005257542.1:n.321-118T>C
XM_006721965.3:c.141-118T>C	XP_006722028.1:n.141-118T>C
XM_011524957.2:c.759-118T>C	XP_011523259.1:n.759-118T>C
XM_011524958.2:c.759-118T>C	XP_011523260.1:n.759-118T>C
XM_011524959.2:c.759-118T>C	XP_011523261.1:n.759-118T>C
XM_011524960.2:c.759-118T>C	XP_011523262.1:n.759-118T>C
XM_017024804.2:c.750-118T>C	XP_016880293.1:n.750-118T>C
XM_017024805.1:c.321-118T>C	XP_016880294.1:n.321-118T>C
XR_002958042.1:n.804-118T>C
NM_001321268.2:c.141-118T>C	NP_001308197.1:n.141-118T>C
NM_001321269.2:c.750-118T>C	NP_001308198.1:n.750-118T>C
NM_001330397.2:c.750-118T>C	NP_001317326.1:n.750-118T>C
NM_017777.4:c.750-118T>C MANE Select	NP_060247.2:n.750-118T>C