Canonical Allele Identifier: CA10649657

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58205698T>C , CM000679.2:g.58205698T>C	GRCh38
NC_000017.10:g.56283059T>C , CM000679.1:g.56283059T>C	GRCh37
NC_000017.9:g.53638058T>C	NCBI36
NG_013020.1:g.17971T>C
NG_013032.1:g.18908A>G , LRG_687:g.18908A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.*381A>G MANE Select	NP_060247.2:n.*381A>G
ENST00000393119.7:c.*381A>G MANE Select	ENSP00000376827.2:n.*381A>G
NM_001165927.1:c.*381A>G , LRG_687t2:c.*381A>G	NP_001159399.1:n.*381A>G
NM_001321268.1:c.*381A>G	NP_001308197.1:n.*381A>G
NM_001321268.2:c.*381A>G	NP_001308197.1:n.*381A>G
NM_001321269.1:c.*292A>G	NP_001308198.1:n.*292A>G
NM_001321269.2:c.*292A>G	NP_001308198.1:n.*292A>G
NM_001330397.1:c.*473A>G	NP_001317326.1:n.*473A>G
NM_001330397.2:c.*473A>G	NP_001317326.1:n.*473A>G
NM_017777.3:c.*381A>G , LRG_687t1:c.*381A>G	NP_060247.2:n.*381A>G
ENST00000313863.10:c.*473A>G	ENSP00000316631.6:n.*473A>G
ENST00000313863.11:c.*473A>G	ENSP00000316631.6:n.*473A>G
ENST00000393119.6:c.*381A>G	ENSP00000376827.2:n.*381A>G
ENST00000675753.2:c.*1680A>G	ENSP00000502156.1:n.*1680A>G
ENST00000676787.1:c.*381A>G	ENSP00000503999.1:n.*381A>G
ENST00000677111.1:c.*1535A>G	ENSP00000504282.1:n.*1535A>G
ENST00000677160.1:n.3335A>G
ENST00000677416.1:n.3382A>G
ENST00000677486.1:c.*1405A>G	ENSP00000503852.1:n.*1405A>G
ENST00000677709.1:n.2761A>G
ENST00000678011.1:n.2961A>G
ENST00000678432.1:c.*1835A>G	ENSP00000504452.1:n.*1835A>G
ENST00000678463.1:c.*292A>G	ENSP00000502984.1:n.*292A>G
ENST00000678568.1:c.*1385A>G	ENSP00000504754.1:n.*1385A>G
ENST00000678641.1:c.*1405A>G	ENSP00000503159.1:n.*1405A>G
ENST00000678763.1:n.2376A>G
XM_005257483.3:c.*292A>G	XP_005257540.1:n.*292A>G
XM_005257485.3:c.*292A>G	XP_005257542.1:n.*292A>G
XM_005257485.4:c.*292A>G	XP_005257542.1:n.*292A>G
XM_005257486.3:c.*381A>G	XP_005257543.1:n.*381A>G
XM_006721965.2:c.*292A>G	XP_006722028.1:n.*292A>G
XM_006721965.3:c.*292A>G	XP_006722028.1:n.*292A>G
XM_011524957.1:c.*292A>G	XP_011523259.1:n.*292A>G
XM_011524957.2:c.*292A>G	XP_011523259.1:n.*292A>G
XM_011524958.1:c.*381A>G	XP_011523260.1:n.*381A>G
XM_011524958.2:c.*381A>G	XP_011523260.1:n.*381A>G
XM_011524959.1:c.*473A>G	XP_011523261.1:n.*473A>G
XM_011524959.2:c.*473A>G	XP_011523261.1:n.*473A>G
XM_017024805.1:c.*381A>G	XP_016880294.1:n.*381A>G
XR_002958042.1:n.1989A>G