Canonical Allele Identifier: CA346858

Gene: MKS1

Linked Data

• ClinVar Variation Id: 194102
• ClinVar RCV Id: RCV000174384 ; RCV000671535 ; RCV003474925 ; RCV004537366
• dbSNP Id: rs794727070
• gnomAD v4: 17-58208585-T-G
• MyVariant Identifiers: chr17:g.56285946T>G (hg19) ; chr17:g.58208585T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58208585T>G , CM000679.2:g.58208585T>G	GRCh38
NC_000017.10:g.56285946T>G , CM000679.1:g.56285946T>G	GRCh37
NC_000017.9:g.53640945T>G	NCBI36
NG_013032.1:g.16021A>C , LRG_687:g.16021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1025-2A>C	ENSP00000316631.6:n.1025-2A>C
ENST00000393119.7:c.1025-2A>C MANE Select	ENSP00000376827.2:n.1025-2A>C
ENST00000537529.7:c.596-2A>C	ENSP00000442096.3:n.596-2A>C
ENST00000580127.6:c.1025-2A>C	ENSP00000462423.2:n.1025-2A>C
ENST00000585134.2:c.1025-2A>C	ENSP00000463826.2:n.1025-2A>C
ENST00000675753.2:c.*644-2A>C	ENSP00000502156.1:n.*644-2A>C
ENST00000676787.1:c.896-2A>C	ENSP00000503999.1:n.896-2A>C
ENST00000677111.1:c.916-2A>C	ENSP00000504282.1:n.916-2A>C
ENST00000677160.1:n.2299-2A>C
ENST00000677416.1:n.1050-2A>C
ENST00000677486.1:c.*369-2A>C	ENSP00000503852.1:n.*369-2A>C
ENST00000677709.1:n.1050-2A>C
ENST00000678011.1:n.1050-2A>C
ENST00000678432.1:c.*644-2A>C	ENSP00000504452.1:n.*644-2A>C
ENST00000678463.1:c.1025-2A>C	ENSP00000502984.1:n.1025-2A>C
ENST00000678568.1:c.*432-2A>C	ENSP00000504754.1:n.*432-2A>C
ENST00000678641.1:c.*369-2A>C	ENSP00000503159.1:n.*369-2A>C
ENST00000678763.1:n.803-2A>C
ENST00000313863.10:c.1025-2A>C	ENSP00000316631.6:n.1025-2A>C
ENST00000393119.6:c.1025-2A>C	ENSP00000376827.2:n.1025-2A>C
ENST00000393120.6:c.*432-2A>C	ENSP00000376828.2:n.*432-2A>C
ENST00000537529.6:c.995-2A>C	ENSP00000442096.2:n.995-2A>C
ENST00000577315.5:c.78-2A>C
ENST00000577824.5:c.502-2A>C
ENST00000579358.1:n.463-2A>C
ENST00000585134.1:c.248-2A>C	ENSP00000463826.1:n.248-2A>C
NM_001165927.1:c.995-2A>C , LRG_687t2:c.995-2A>C	NP_001159399.1:n.995-2A>C
NM_017777.3:c.1025-2A>C , LRG_687t1:c.1025-2A>C	NP_060247.2:n.1025-2A>C
XM_005257483.3:c.1025-2A>C	XP_005257540.1:n.1025-2A>C
XM_005257485.3:c.596-2A>C	XP_005257542.1:n.596-2A>C
XM_005257486.3:c.416-2A>C	XP_005257543.1:n.416-2A>C
XM_006721965.2:c.416-2A>C	XP_006722028.1:n.416-2A>C
XM_011524957.1:c.1034-2A>C	XP_011523259.1:n.1034-2A>C
XM_011524958.1:c.1034-2A>C	XP_011523260.1:n.1034-2A>C
XM_011524959.1:c.1034-2A>C	XP_011523261.1:n.1034-2A>C
XM_011524960.1:c.1034-2A>C	XP_011523262.1:n.1034-2A>C
XR_934494.1:n.1039-2A>C
NM_001321268.1:c.416-2A>C	NP_001308197.1:n.416-2A>C
NM_001321269.1:c.1025-2A>C	NP_001308198.1:n.1025-2A>C
NM_001330397.1:c.1025-2A>C	NP_001317326.1:n.1025-2A>C
XM_005257485.4:c.596-2A>C	XP_005257542.1:n.596-2A>C
XM_006721965.3:c.416-2A>C	XP_006722028.1:n.416-2A>C
XM_011524957.2:c.1034-2A>C	XP_011523259.1:n.1034-2A>C
XM_011524958.2:c.1034-2A>C	XP_011523260.1:n.1034-2A>C
XM_011524959.2:c.1034-2A>C	XP_011523261.1:n.1034-2A>C
XM_011524960.2:c.1034-2A>C	XP_011523262.1:n.1034-2A>C
XM_017024804.2:c.1025-2A>C	XP_016880293.1:n.1025-2A>C
XM_017024805.1:c.596-2A>C	XP_016880294.1:n.596-2A>C
XR_002958042.1:n.1036-2A>C
NM_001321268.2:c.416-2A>C	NP_001308197.1:n.416-2A>C
NM_001321269.2:c.1025-2A>C	NP_001308198.1:n.1025-2A>C
NM_001330397.2:c.1025-2A>C	NP_001317326.1:n.1025-2A>C
NM_017777.4:c.1025-2A>C MANE Select	NP_060247.2:n.1025-2A>C