Canonical Allele Identifier: CA400324155

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283441T>G (hg19) ; chr17:g.58206080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206080T>G , CM000679.2:g.58206080T>G	GRCh38
NC_000017.10:g.56283441T>G , CM000679.1:g.56283441T>G	GRCh37
NC_000017.9:g.53638440T>G	NCBI36
NG_013020.1:g.18353T>G
NG_013032.1:g.18526A>C , LRG_687:g.18526A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*91A>C	ENSP00000316631.6:n.*91A>C
ENST00000393119.7:c.1679A>C MANE Select	ENSP00000376827.2:p.Ter560Ser
ENST00000537529.7:c.1250A>C	ENSP00000442096.3:p.Ter417Ser
ENST00000675753.2:c.*1298A>C	ENSP00000502156.1:n.*1298A>C
ENST00000676787.1:c.1550A>C	ENSP00000503999.1:p.Ter517Ser
ENST00000677111.1:c.*1153A>C	ENSP00000504282.1:n.*1153A>C
ENST00000677160.1:n.2953A>C
ENST00000677416.1:n.3000A>C
ENST00000677486.1:c.*1023A>C	ENSP00000503852.1:n.*1023A>C
ENST00000677709.1:n.2379A>C
ENST00000678011.1:n.2579A>C
ENST00000678432.1:c.*1453A>C	ENSP00000504452.1:n.*1453A>C
ENST00000678463.1:c.1596A>C	ENSP00000502984.1:p.Leu532=
ENST00000678568.1:c.*1003A>C	ENSP00000504754.1:n.*1003A>C
ENST00000678641.1:c.*1023A>C	ENSP00000503159.1:n.*1023A>C
ENST00000678763.1:n.1994A>C
ENST00000313863.10:c.*91A>C	ENSP00000316631.6:n.*91A>C
ENST00000393119.6:c.1679A>C	ENSP00000376827.2:p.Ter560Ser
ENST00000393120.6:c.*1086A>C	ENSP00000376828.2:n.*1086A>C
ENST00000537529.6:c.1649A>C	ENSP00000442096.2:p.Ter550Ser
ENST00000583577.1:n.505A>C
NM_001165927.1:c.1649A>C , LRG_687t2:c.1649A>C	NP_001159399.1:p.Ter550Ser
NM_017777.3:c.1679A>C , LRG_687t1:c.1679A>C	NP_060247.2:p.Ter560Ser
XM_005257483.3:c.1596A>C	XP_005257540.1:p.Leu532=
XM_005257485.3:c.1167A>C	XP_005257542.1:p.Leu389=
XM_005257486.3:c.1070A>C	XP_005257543.1:p.Ter357Ser
XM_006721965.2:c.987A>C	XP_006722028.1:p.Leu329=
XM_011524957.1:c.1605A>C	XP_011523259.1:p.Leu535=
XM_011524958.1:c.1688A>C	XP_011523260.1:p.Ter563Ser
XM_011524959.1:c.*91A>C	XP_011523261.1:n.*91A>C
NM_001321268.1:c.1070A>C	NP_001308197.1:p.Ter357Ser
NM_001321269.1:c.1596A>C	NP_001308198.1:p.Leu532=
NM_001330397.1:c.*91A>C	NP_001317326.1:n.*91A>C
XM_005257485.4:c.1167A>C	XP_005257542.1:p.Leu389=
XM_006721965.3:c.987A>C	XP_006722028.1:p.Leu329=
XM_011524957.2:c.1605A>C	XP_011523259.1:p.Leu535=
XM_011524958.2:c.1688A>C	XP_011523260.1:p.Ter563Ser
XM_011524959.2:c.*91A>C	XP_011523261.1:n.*91A>C
XM_017024805.1:c.1250A>C	XP_016880294.1:p.Ter417Ser
XR_002958042.1:n.1607A>C
NM_001321268.2:c.1070A>C	NP_001308197.1:p.Ter357Ser
NM_001321269.2:c.1596A>C	NP_001308198.1:p.Leu532=
NM_001330397.2:c.*91A>C	NP_001317326.1:n.*91A>C
NM_017777.4:c.1679A>C MANE Select	NP_060247.2:p.Ter560Ser