Canonical Allele Identifier: CA501324226

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283527G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206166G>C , CM000679.2:g.58206166G>C	GRCh38
NC_000017.10:g.56283527G>C , CM000679.1:g.56283527G>C	GRCh37
NC_000017.9:g.53638526G>C	NCBI36
NG_013020.1:g.18439G>C
NG_013032.1:g.18440C>G , LRG_687:g.18440C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*5C>G	ENSP00000316631.6:n.*5C>G
ENST00000393119.7:c.1593C>G MANE Select	ENSP00000376827.2:p.Ala531=
ENST00000537529.7:c.1164C>G	ENSP00000442096.3:p.Ala388=
ENST00000675753.2:c.*1212C>G	ENSP00000502156.1:n.*1212C>G
ENST00000676787.1:c.1464C>G	ENSP00000503999.1:p.Ala488=
ENST00000677111.1:c.*1067C>G	ENSP00000504282.1:n.*1067C>G
ENST00000677160.1:n.2867C>G
ENST00000677416.1:n.2914C>G
ENST00000677486.1:c.*937C>G	ENSP00000503852.1:n.*937C>G
ENST00000677709.1:n.2293C>G
ENST00000678011.1:n.2493C>G
ENST00000678432.1:c.*1367C>G	ENSP00000504452.1:n.*1367C>G
ENST00000678463.1:c.1510C>G	ENSP00000502984.1:p.Leu504Val
ENST00000678568.1:c.*917C>G	ENSP00000504754.1:n.*917C>G
ENST00000678641.1:c.*937C>G	ENSP00000503159.1:n.*937C>G
ENST00000678763.1:n.1908C>G
ENST00000313863.10:c.*5C>G	ENSP00000316631.6:n.*5C>G
ENST00000393119.6:c.1593C>G	ENSP00000376827.2:p.Ala531=
ENST00000393120.6:c.*1000C>G	ENSP00000376828.2:n.*1000C>G
ENST00000537529.6:c.1563C>G	ENSP00000442096.2:p.Ala521=
ENST00000583577.1:n.419C>G
NM_001165927.1:c.1563C>G , LRG_687t2:c.1563C>G	NP_001159399.1:p.Ala521=
NM_017777.3:c.1593C>G , LRG_687t1:c.1593C>G	NP_060247.2:p.Ala531=
XM_005257483.3:c.1510C>G	XP_005257540.1:p.Leu504Val
XM_005257485.3:c.1081C>G	XP_005257542.1:p.Leu361Val
XM_005257486.3:c.984C>G	XP_005257543.1:p.Ala328=
XM_006721965.2:c.901C>G	XP_006722028.1:p.Leu301Val
XM_011524957.1:c.1519C>G	XP_011523259.1:p.Leu507Val
XM_011524958.1:c.1602C>G	XP_011523260.1:p.Ala534=
XM_011524959.1:c.*5C>G	XP_011523261.1:n.*5C>G
NM_001321268.1:c.984C>G	NP_001308197.1:p.Ala328=
NM_001321269.1:c.1510C>G	NP_001308198.1:p.Leu504Val
NM_001330397.1:c.*5C>G	NP_001317326.1:n.*5C>G
XM_005257485.4:c.1081C>G	XP_005257542.1:p.Leu361Val
XM_006721965.3:c.901C>G	XP_006722028.1:p.Leu301Val
XM_011524957.2:c.1519C>G	XP_011523259.1:p.Leu507Val
XM_011524958.2:c.1602C>G	XP_011523260.1:p.Ala534=
XM_011524959.2:c.*5C>G	XP_011523261.1:n.*5C>G
XM_017024805.1:c.1164C>G	XP_016880294.1:p.Ala388=
XR_002958042.1:n.1521C>G
NM_001321268.2:c.984C>G	NP_001308197.1:p.Ala328=
NM_001321269.2:c.1510C>G	NP_001308198.1:p.Leu504Val
NM_001330397.2:c.*5C>G	NP_001317326.1:n.*5C>G
NM_017777.4:c.1593C>G MANE Select	NP_060247.2:p.Ala531=