Canonical Allele Identifier: CA400324428

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206314G>A , CM000679.2:g.58206314G>A	GRCh38
NC_000017.10:g.56283675G>A , CM000679.1:g.56283675G>A	GRCh37
NC_000017.9:g.53638674G>A	NCBI36
NG_013020.1:g.18587G>A
NG_013032.1:g.18292C>T , LRG_687:g.18292C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1557C>T MANE Select	NP_060247.2:p.Phe519=
ENST00000393119.7:c.1557C>T MANE Select	ENSP00000376827.2:p.Phe519=
NM_001165927.1:c.1527C>T , LRG_687t2:c.1527C>T	NP_001159399.1:p.Phe509=
NM_001321268.1:c.948C>T	NP_001308197.1:p.Phe316=
NM_001321268.2:c.948C>T	NP_001308197.1:p.Phe316=
NM_001321269.1:c.1474C>T	NP_001308198.1:p.Gln492Ter
NM_001321269.2:c.1474C>T	NP_001308198.1:p.Gln492Ter
NM_001330397.1:c.1340C>T	NP_001317326.1:p.Ser447Leu
NM_001330397.2:c.1340C>T	NP_001317326.1:p.Ser447Leu
NM_017777.3:c.1557C>T , LRG_687t1:c.1557C>T	NP_060247.2:p.Phe519=
ENST00000313863.10:c.1340C>T	ENSP00000316631.6:p.Ser447Leu
ENST00000313863.11:c.1340C>T	ENSP00000316631.6:p.Ser447Leu
ENST00000393119.6:c.1557C>T	ENSP00000376827.2:p.Phe519=
ENST00000393120.6:c.*964C>T	ENSP00000376828.2:n.*964C>T
ENST00000537529.6:c.1527C>T	ENSP00000442096.2:p.Phe509=
ENST00000537529.7:c.1128C>T	ENSP00000442096.3:p.Phe376=
ENST00000583577.1:n.383C>T
ENST00000675753.2:c.*1176C>T	ENSP00000502156.1:n.*1176C>T
ENST00000676787.1:c.1428C>T	ENSP00000503999.1:p.Phe476=
ENST00000677111.1:c.*1031C>T	ENSP00000504282.1:n.*1031C>T
ENST00000677160.1:n.2831C>T
ENST00000677416.1:n.2878C>T
ENST00000677486.1:c.*901C>T	ENSP00000503852.1:n.*901C>T
ENST00000677709.1:n.2257C>T
ENST00000678011.1:n.2457C>T
ENST00000678432.1:c.*1331C>T	ENSP00000504452.1:n.*1331C>T
ENST00000678463.1:c.1474C>T	ENSP00000502984.1:p.Gln492Ter
ENST00000678568.1:c.*881C>T	ENSP00000504754.1:n.*881C>T
ENST00000678641.1:c.*901C>T	ENSP00000503159.1:n.*901C>T
ENST00000678763.1:n.1872C>T
XM_005257483.3:c.1474C>T	XP_005257540.1:p.Gln492Ter
XM_005257485.3:c.1045C>T	XP_005257542.1:p.Gln349Ter
XM_005257485.4:c.1045C>T	XP_005257542.1:p.Gln349Ter
XM_005257486.3:c.948C>T	XP_005257543.1:p.Phe316=
XM_006721965.2:c.865C>T	XP_006722028.1:p.Gln289Ter
XM_006721965.3:c.865C>T	XP_006722028.1:p.Gln289Ter
XM_011524957.1:c.1483C>T	XP_011523259.1:p.Gln495Ter
XM_011524957.2:c.1483C>T	XP_011523259.1:p.Gln495Ter
XM_011524958.1:c.1566C>T	XP_011523260.1:p.Phe522=
XM_011524958.2:c.1566C>T	XP_011523260.1:p.Phe522=
XM_011524959.1:c.1349C>T	XP_011523261.1:p.Ser450Leu
XM_011524959.2:c.1349C>T	XP_011523261.1:p.Ser450Leu
XM_017024805.1:c.1128C>T	XP_016880294.1:p.Phe376=
XR_002958042.1:n.1485C>T