Canonical Allele Identifier: CA627142960

Gene: MKS1

Linked Data

• dbSNP Id: rs1458211642
• gnomAD v2: 17-56283439-G-A
• MyVariant Identifiers: chr17:g.56283439G>A (hg19) ; chr17:g.58206078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206078G>A , CM000679.2:g.58206078G>A	GRCh38
NC_000017.10:g.56283439G>A , CM000679.1:g.56283439G>A	GRCh37
NC_000017.9:g.53638438G>A	NCBI36
NG_013020.1:g.18351G>A
NG_013032.1:g.18528C>T , LRG_687:g.18528C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*93C>T	ENSP00000316631.6:n.*93C>T
ENST00000393119.7:c.*1C>T MANE Select	ENSP00000376827.2:n.*1C>T
ENST00000537529.7:c.*1C>T	ENSP00000442096.3:n.*1C>T
ENST00000675753.2:c.*1300C>T	ENSP00000502156.1:n.*1300C>T
ENST00000676787.1:c.*1C>T	ENSP00000503999.1:n.*1C>T
ENST00000677111.1:c.*1155C>T	ENSP00000504282.1:n.*1155C>T
ENST00000677160.1:n.2955C>T
ENST00000677416.1:n.3002C>T
ENST00000677486.1:c.*1025C>T	ENSP00000503852.1:n.*1025C>T
ENST00000677709.1:n.2381C>T
ENST00000678011.1:n.2581C>T
ENST00000678432.1:c.*1455C>T	ENSP00000504452.1:n.*1455C>T
ENST00000678463.1:c.1598C>T	ENSP00000502984.1:p.Ala533Val
ENST00000678568.1:c.*1005C>T	ENSP00000504754.1:n.*1005C>T
ENST00000678641.1:c.*1025C>T	ENSP00000503159.1:n.*1025C>T
ENST00000678763.1:n.1996C>T
ENST00000313863.10:c.*93C>T	ENSP00000316631.6:n.*93C>T
ENST00000393119.6:c.*1C>T	ENSP00000376827.2:n.*1C>T
ENST00000393120.6:c.*1088C>T	ENSP00000376828.2:n.*1088C>T
ENST00000537529.6:c.*1C>T	ENSP00000442096.2:n.*1C>T
ENST00000583577.1:n.507C>T
NM_001165927.1:c.*1C>T , LRG_687t2:c.*1C>T	NP_001159399.1:n.*1C>T
NM_017777.3:c.*1C>T , LRG_687t1:c.*1C>T	NP_060247.2:n.*1C>T
XM_005257483.3:c.1598C>T	XP_005257540.1:p.Ala533Val
XM_005257485.3:c.1169C>T	XP_005257542.1:p.Ala390Val
XM_005257486.3:c.*1C>T	XP_005257543.1:n.*1C>T
XM_006721965.2:c.989C>T	XP_006722028.1:p.Ala330Val
XM_011524957.1:c.1607C>T	XP_011523259.1:p.Ala536Val
XM_011524958.1:c.*1C>T	XP_011523260.1:n.*1C>T
XM_011524959.1:c.*93C>T	XP_011523261.1:n.*93C>T
NM_001321268.1:c.*1C>T	NP_001308197.1:n.*1C>T
NM_001321269.1:c.1598C>T	NP_001308198.1:p.Ala533Val
NM_001330397.1:c.*93C>T	NP_001317326.1:n.*93C>T
XM_005257485.4:c.1169C>T	XP_005257542.1:p.Ala390Val
XM_006721965.3:c.989C>T	XP_006722028.1:p.Ala330Val
XM_011524957.2:c.1607C>T	XP_011523259.1:p.Ala536Val
XM_011524958.2:c.*1C>T	XP_011523260.1:n.*1C>T
XM_011524959.2:c.*93C>T	XP_011523261.1:n.*93C>T
XM_017024805.1:c.*1C>T	XP_016880294.1:n.*1C>T
XR_002958042.1:n.1609C>T
NM_001321268.2:c.*1C>T	NP_001308197.1:n.*1C>T
NM_001321269.2:c.1598C>T	NP_001308198.1:p.Ala533Val
NM_001330397.2:c.*93C>T	NP_001317326.1:n.*93C>T
NM_017777.4:c.*1C>T MANE Select	NP_060247.2:n.*1C>T