Canonical Allele Identifier: CA400327113

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56292102A>G (hg19) ; chr17:g.58214741A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58214741A>G , CM000679.2:g.58214741A>G	GRCh38
NC_000017.10:g.56292102A>G , CM000679.1:g.56292102A>G	GRCh37
NC_000017.9:g.53647101A>G	NCBI36
NG_013032.1:g.9865T>C , LRG_687:g.9865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.515T>C	ENSP00000316631.6:p.Met172Thr
ENST00000393119.7:c.515T>C MANE Select	ENSP00000376827.2:p.Met172Thr
ENST00000537529.7:c.86T>C	ENSP00000442096.3:p.Met29Thr
ENST00000580127.6:c.515T>C	ENSP00000462423.2:p.Met172Thr
ENST00000581761.6:c.515T>C	ENSP00000462129.2:p.Met172Thr
ENST00000585134.2:c.515T>C	ENSP00000463826.2:p.Met172Thr
ENST00000675753.2:c.*134T>C	ENSP00000502156.1:n.*134T>C
ENST00000676787.1:c.515T>C	ENSP00000503999.1:p.Met172Thr
ENST00000676975.1:c.380T>C	ENSP00000503970.1:n.380T>C
ENST00000677076.1:n.1789T>C
ENST00000677111.1:c.515T>C	ENSP00000504282.1:p.Met172Thr
ENST00000677160.1:n.1789T>C
ENST00000677416.1:n.540T>C
ENST00000677475.1:n.1792T>C
ENST00000677486.1:c.262-872T>C	ENSP00000503852.1:n.262-872T>C
ENST00000677546.1:c.418-872T>C	ENSP00000504043.1:n.418-872T>C
ENST00000677709.1:n.540T>C
ENST00000677791.1:n.543T>C
ENST00000678011.1:n.540T>C
ENST00000678211.1:n.2211T>C
ENST00000678432.1:c.*134T>C	ENSP00000504452.1:n.*134T>C
ENST00000678463.1:c.515T>C	ENSP00000502984.1:p.Met172Thr
ENST00000678481.1:n.446-872T>C
ENST00000678568.1:c.288T>C	ENSP00000504754.1:p.Asp96=
ENST00000678641.1:c.418-872T>C	ENSP00000503159.1:n.418-872T>C
ENST00000678928.1:n.1789T>C
ENST00000679081.1:n.1789T>C
ENST00000313863.10:c.515T>C	ENSP00000316631.6:p.Met172Thr
ENST00000393119.6:c.515T>C	ENSP00000376827.2:p.Met172Thr
ENST00000393120.6:c.418-354T>C	ENSP00000376828.2:n.418-354T>C
ENST00000537529.6:c.485T>C	ENSP00000442096.2:p.Met162Thr
ENST00000578789.1:c.*258T>C	ENSP00000462411.1:n.*258T>C
ENST00000580127.5:c.*134T>C	ENSP00000462423.1:n.*134T>C
ENST00000581761.5:c.288T>C	ENSP00000462129.1:p.Asp96=
NM_001165927.1:c.485T>C , LRG_687t2:c.485T>C	NP_001159399.1:p.Met162Thr
NM_017777.3:c.515T>C , LRG_687t1:c.515T>C	NP_060247.2:p.Met172Thr
XM_005257483.3:c.515T>C	XP_005257540.1:p.Met172Thr
XM_005257485.3:c.86T>C	XP_005257542.1:p.Met29Thr
XM_005257486.3:c.-94-354T>C	XP_005257543.1:n.-94-354T>C
XM_006721965.2:c.-94-354T>C	XP_006722028.1:n.-94-354T>C
XM_011524957.1:c.524T>C	XP_011523259.1:p.Met175Thr
XM_011524958.1:c.524T>C	XP_011523260.1:p.Met175Thr
XM_011524959.1:c.524T>C	XP_011523261.1:p.Met175Thr
XM_011524960.1:c.524T>C	XP_011523262.1:p.Met175Thr
XR_934494.1:n.572T>C
NM_001321268.1:c.-94-354T>C	NP_001308197.1:n.-94-354T>C
NM_001321269.1:c.515T>C	NP_001308198.1:p.Met172Thr
NM_001330397.1:c.515T>C	NP_001317326.1:p.Met172Thr
XM_005257485.4:c.86T>C	XP_005257542.1:p.Met29Thr
XM_006721965.3:c.-94-354T>C	XP_006722028.1:n.-94-354T>C
XM_011524957.2:c.524T>C	XP_011523259.1:p.Met175Thr
XM_011524958.2:c.524T>C	XP_011523260.1:p.Met175Thr
XM_011524959.2:c.524T>C	XP_011523261.1:p.Met175Thr
XM_011524960.2:c.524T>C	XP_011523262.1:p.Met175Thr
XM_017024804.2:c.515T>C	XP_016880293.1:p.Met172Thr
XM_017024805.1:c.86T>C	XP_016880294.1:p.Met29Thr
XR_002958042.1:n.569T>C
NM_001321268.2:c.-94-354T>C	NP_001308197.1:n.-94-354T>C
NM_001321269.2:c.515T>C	NP_001308198.1:p.Met172Thr
NM_001330397.2:c.515T>C	NP_001317326.1:p.Met172Thr
NM_017777.4:c.515T>C MANE Select	NP_060247.2:p.Met172Thr