Canonical Allele Identifier: CA400324313

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283524G>C (hg19) ; chr17:g.58206163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206163G>C , CM000679.2:g.58206163G>C	GRCh38
NC_000017.10:g.56283524G>C , CM000679.1:g.56283524G>C	GRCh37
NC_000017.9:g.53638523G>C	NCBI36
NG_013020.1:g.18436G>C
NG_013032.1:g.18443C>G , LRG_687:g.18443C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*8C>G	ENSP00000316631.6:n.*8C>G
ENST00000393119.7:c.1596C>G MANE Select	ENSP00000376827.2:p.Phe532Leu
ENST00000537529.7:c.1167C>G	ENSP00000442096.3:p.Phe389Leu
ENST00000675753.2:c.*1215C>G	ENSP00000502156.1:n.*1215C>G
ENST00000676787.1:c.1467C>G	ENSP00000503999.1:p.Phe489Leu
ENST00000677111.1:c.*1070C>G	ENSP00000504282.1:n.*1070C>G
ENST00000677160.1:n.2870C>G
ENST00000677416.1:n.2917C>G
ENST00000677486.1:c.*940C>G	ENSP00000503852.1:n.*940C>G
ENST00000677709.1:n.2296C>G
ENST00000678011.1:n.2496C>G
ENST00000678432.1:c.*1370C>G	ENSP00000504452.1:n.*1370C>G
ENST00000678463.1:c.1513C>G	ENSP00000502984.1:p.Pro505Ala
ENST00000678568.1:c.*920C>G	ENSP00000504754.1:n.*920C>G
ENST00000678641.1:c.*940C>G	ENSP00000503159.1:n.*940C>G
ENST00000678763.1:n.1911C>G
ENST00000313863.10:c.*8C>G	ENSP00000316631.6:n.*8C>G
ENST00000393119.6:c.1596C>G	ENSP00000376827.2:p.Phe532Leu
ENST00000393120.6:c.*1003C>G	ENSP00000376828.2:n.*1003C>G
ENST00000537529.6:c.1566C>G	ENSP00000442096.2:p.Phe522Leu
ENST00000583577.1:n.422C>G
NM_001165927.1:c.1566C>G , LRG_687t2:c.1566C>G	NP_001159399.1:p.Phe522Leu
NM_017777.3:c.1596C>G , LRG_687t1:c.1596C>G	NP_060247.2:p.Phe532Leu
XM_005257483.3:c.1513C>G	XP_005257540.1:p.Pro505Ala
XM_005257485.3:c.1084C>G	XP_005257542.1:p.Pro362Ala
XM_005257486.3:c.987C>G	XP_005257543.1:p.Phe329Leu
XM_006721965.2:c.904C>G	XP_006722028.1:p.Pro302Ala
XM_011524957.1:c.1522C>G	XP_011523259.1:p.Pro508Ala
XM_011524958.1:c.1605C>G	XP_011523260.1:p.Phe535Leu
XM_011524959.1:c.*8C>G	XP_011523261.1:n.*8C>G
NM_001321268.1:c.987C>G	NP_001308197.1:p.Phe329Leu
NM_001321269.1:c.1513C>G	NP_001308198.1:p.Pro505Ala
NM_001330397.1:c.*8C>G	NP_001317326.1:n.*8C>G
XM_005257485.4:c.1084C>G	XP_005257542.1:p.Pro362Ala
XM_006721965.3:c.904C>G	XP_006722028.1:p.Pro302Ala
XM_011524957.2:c.1522C>G	XP_011523259.1:p.Pro508Ala
XM_011524958.2:c.1605C>G	XP_011523260.1:p.Phe535Leu
XM_011524959.2:c.*8C>G	XP_011523261.1:n.*8C>G
XM_017024805.1:c.1167C>G	XP_016880294.1:p.Phe389Leu
XR_002958042.1:n.1524C>G
NM_001321268.2:c.987C>G	NP_001308197.1:p.Phe329Leu
NM_001321269.2:c.1513C>G	NP_001308198.1:p.Pro505Ala
NM_001330397.2:c.*8C>G	NP_001317326.1:n.*8C>G
NM_017777.4:c.1596C>G MANE Select	NP_060247.2:p.Phe532Leu