Canonical Allele Identifier: CA2638958959

Gene: MKS1

Linked Data

• gnomAD v4: 17-58206077-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206077A>G , CM000679.2:g.58206077A>G	GRCh38
NC_000017.10:g.56283438A>G , CM000679.1:g.56283438A>G	GRCh37
NC_000017.9:g.53638437A>G	NCBI36
NG_013020.1:g.18350A>G
NG_013032.1:g.18529T>C , LRG_687:g.18529T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*94T>C	ENSP00000316631.6:n.*94T>C
ENST00000393119.7:c.*2T>C MANE Select	ENSP00000376827.2:n.*2T>C
ENST00000537529.7:c.*2T>C	ENSP00000442096.3:n.*2T>C
ENST00000675753.2:c.*1301T>C	ENSP00000502156.1:n.*1301T>C
ENST00000676787.1:c.*2T>C	ENSP00000503999.1:n.*2T>C
ENST00000677111.1:c.*1156T>C	ENSP00000504282.1:n.*1156T>C
ENST00000677160.1:n.2956T>C
ENST00000677416.1:n.3003T>C
ENST00000677486.1:c.*1026T>C	ENSP00000503852.1:n.*1026T>C
ENST00000677709.1:n.2382T>C
ENST00000678011.1:n.2582T>C
ENST00000678432.1:c.*1456T>C	ENSP00000504452.1:n.*1456T>C
ENST00000678463.1:c.1599T>C	ENSP00000502984.1:p.Ala533=
ENST00000678568.1:c.*1006T>C	ENSP00000504754.1:n.*1006T>C
ENST00000678641.1:c.*1026T>C	ENSP00000503159.1:n.*1026T>C
ENST00000678763.1:n.1997T>C
ENST00000313863.10:c.*94T>C	ENSP00000316631.6:n.*94T>C
ENST00000393119.6:c.*2T>C	ENSP00000376827.2:n.*2T>C
ENST00000393120.6:c.*1089T>C	ENSP00000376828.2:n.*1089T>C
ENST00000537529.6:c.*2T>C	ENSP00000442096.2:n.*2T>C
ENST00000583577.1:n.508T>C
NM_001165927.1:c.*2T>C , LRG_687t2:c.*2T>C	NP_001159399.1:n.*2T>C
NM_017777.3:c.*2T>C , LRG_687t1:c.*2T>C	NP_060247.2:n.*2T>C
XM_005257483.3:c.1599T>C	XP_005257540.1:p.Ala533=
XM_005257485.3:c.1170T>C	XP_005257542.1:p.Ala390=
XM_005257486.3:c.*2T>C	XP_005257543.1:n.*2T>C
XM_006721965.2:c.990T>C	XP_006722028.1:p.Ala330=
XM_011524957.1:c.1608T>C	XP_011523259.1:p.Ala536=
XM_011524958.1:c.*2T>C	XP_011523260.1:n.*2T>C
XM_011524959.1:c.*94T>C	XP_011523261.1:n.*94T>C
NM_001321268.1:c.*2T>C	NP_001308197.1:n.*2T>C
NM_001321269.1:c.1599T>C	NP_001308198.1:p.Ala533=
NM_001330397.1:c.*94T>C	NP_001317326.1:n.*94T>C
XM_005257485.4:c.1170T>C	XP_005257542.1:p.Ala390=
XM_006721965.3:c.990T>C	XP_006722028.1:p.Ala330=
XM_011524957.2:c.1608T>C	XP_011523259.1:p.Ala536=
XM_011524958.2:c.*2T>C	XP_011523260.1:n.*2T>C
XM_011524959.2:c.*94T>C	XP_011523261.1:n.*94T>C
XM_017024805.1:c.*2T>C	XP_016880294.1:n.*2T>C
XR_002958042.1:n.1610T>C
NM_001321268.2:c.*2T>C	NP_001308197.1:n.*2T>C
NM_001321269.2:c.1599T>C	NP_001308198.1:p.Ala533=
NM_001330397.2:c.*94T>C	NP_001317326.1:n.*94T>C
NM_017777.4:c.*2T>C MANE Select	NP_060247.2:n.*2T>C