Canonical Allele Identifier: CA8669177

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207222C>T , CM000679.2:g.58207222C>T	GRCh38
NC_000017.10:g.56284583C>T , CM000679.1:g.56284583C>T	GRCh37
NC_000017.9:g.53639582C>T	NCBI36
NG_013032.1:g.17384G>A , LRG_687:g.17384G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1274-4G>A MANE Select	NP_060247.2:n.1274-4G>A
ENST00000393119.7:c.1274-4G>A MANE Select	ENSP00000376827.2:n.1274-4G>A
NM_001165927.1:c.1244-4G>A , LRG_687t2:c.1244-4G>A	NP_001159399.1:n.1244-4G>A
NM_001321268.1:c.665-4G>A	NP_001308197.1:n.665-4G>A
NM_001321268.2:c.665-4G>A	NP_001308197.1:n.665-4G>A
NM_001321269.1:c.1274-4G>A	NP_001308198.1:n.1274-4G>A
NM_001321269.2:c.1274-4G>A	NP_001308198.1:n.1274-4G>A
NM_001330397.1:c.1273+672G>A	NP_001317326.1:n.1273+672G>A
NM_001330397.2:c.1273+672G>A	NP_001317326.1:n.1273+672G>A
NM_017777.3:c.1274-4G>A , LRG_687t1:c.1274-4G>A	NP_060247.2:n.1274-4G>A
ENST00000313863.10:c.1273+672G>A	ENSP00000316631.6:n.1273+672G>A
ENST00000313863.11:c.1273+672G>A	ENSP00000316631.6:n.1273+672G>A
ENST00000393119.6:c.1274-4G>A	ENSP00000376827.2:n.1274-4G>A
ENST00000393120.6:c.*681-4G>A	ENSP00000376828.2:n.*681-4G>A
ENST00000537529.6:c.1244-4G>A	ENSP00000442096.2:n.1244-4G>A
ENST00000537529.7:c.845-4G>A	ENSP00000442096.3:n.845-4G>A
ENST00000675753.2:c.*893-4G>A	ENSP00000502156.1:n.*893-4G>A
ENST00000676787.1:c.1145-4G>A	ENSP00000503999.1:n.1145-4G>A
ENST00000677111.1:c.*211-4G>A	ENSP00000504282.1:n.*211-4G>A
ENST00000677160.1:n.2548-4G>A
ENST00000677416.1:n.1970G>A
ENST00000677486.1:c.*618-4G>A	ENSP00000503852.1:n.*618-4G>A
ENST00000677709.1:n.1970G>A
ENST00000678011.1:n.1637-4G>A
ENST00000678432.1:c.*1044G>A	ENSP00000504452.1:n.*1044G>A
ENST00000678463.1:c.1274-4G>A	ENSP00000502984.1:n.1274-4G>A
ENST00000678568.1:c.*681-4G>A	ENSP00000504754.1:n.*681-4G>A
ENST00000678641.1:c.*618-4G>A	ENSP00000503159.1:n.*618-4G>A
ENST00000678763.1:n.1052-4G>A
XM_005257483.3:c.1274-4G>A	XP_005257540.1:n.1274-4G>A
XM_005257485.3:c.845-4G>A	XP_005257542.1:n.845-4G>A
XM_005257485.4:c.845-4G>A	XP_005257542.1:n.845-4G>A
XM_005257486.3:c.665-4G>A	XP_005257543.1:n.665-4G>A
XM_006721965.2:c.665-4G>A	XP_006722028.1:n.665-4G>A
XM_006721965.3:c.665-4G>A	XP_006722028.1:n.665-4G>A
XM_011524957.1:c.1283-4G>A	XP_011523259.1:n.1283-4G>A
XM_011524957.2:c.1283-4G>A	XP_011523259.1:n.1283-4G>A
XM_011524958.1:c.1283-4G>A	XP_011523260.1:n.1283-4G>A
XM_011524958.2:c.1283-4G>A	XP_011523260.1:n.1283-4G>A
XM_011524959.1:c.1282+672G>A	XP_011523261.1:n.1282+672G>A
XM_011524959.2:c.1282+672G>A	XP_011523261.1:n.1282+672G>A
XM_017024805.1:c.845-4G>A	XP_016880294.1:n.845-4G>A
XR_002958042.1:n.1285-4G>A