Canonical Allele Identifier: CA400324317

Gene: MKS1

Linked Data

• gnomAD v4: 17-58206164-A-T
• MyVariant Identifiers: chr17:g.56283525A>T (hg19) ; chr17:g.58206164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206164A>T , CM000679.2:g.58206164A>T	GRCh38
NC_000017.10:g.56283525A>T , CM000679.1:g.56283525A>T	GRCh37
NC_000017.9:g.53638524A>T	NCBI36
NG_013020.1:g.18437A>T
NG_013032.1:g.18442T>A , LRG_687:g.18442T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*7T>A	ENSP00000316631.6:n.*7T>A
ENST00000393119.7:c.1595T>A MANE Select	ENSP00000376827.2:p.Phe532Tyr
ENST00000537529.7:c.1166T>A	ENSP00000442096.3:p.Phe389Tyr
ENST00000675753.2:c.*1214T>A	ENSP00000502156.1:n.*1214T>A
ENST00000676787.1:c.1466T>A	ENSP00000503999.1:p.Phe489Tyr
ENST00000677111.1:c.*1069T>A	ENSP00000504282.1:n.*1069T>A
ENST00000677160.1:n.2869T>A
ENST00000677416.1:n.2916T>A
ENST00000677486.1:c.*939T>A	ENSP00000503852.1:n.*939T>A
ENST00000677709.1:n.2295T>A
ENST00000678011.1:n.2495T>A
ENST00000678432.1:c.*1369T>A	ENSP00000504452.1:n.*1369T>A
ENST00000678463.1:c.1512T>A	ENSP00000502984.1:p.Leu504=
ENST00000678568.1:c.*919T>A	ENSP00000504754.1:n.*919T>A
ENST00000678641.1:c.*939T>A	ENSP00000503159.1:n.*939T>A
ENST00000678763.1:n.1910T>A
ENST00000313863.10:c.*7T>A	ENSP00000316631.6:n.*7T>A
ENST00000393119.6:c.1595T>A	ENSP00000376827.2:p.Phe532Tyr
ENST00000393120.6:c.*1002T>A	ENSP00000376828.2:n.*1002T>A
ENST00000537529.6:c.1565T>A	ENSP00000442096.2:p.Phe522Tyr
ENST00000583577.1:n.421T>A
NM_001165927.1:c.1565T>A , LRG_687t2:c.1565T>A	NP_001159399.1:p.Phe522Tyr
NM_017777.3:c.1595T>A , LRG_687t1:c.1595T>A	NP_060247.2:p.Phe532Tyr
XM_005257483.3:c.1512T>A	XP_005257540.1:p.Leu504=
XM_005257485.3:c.1083T>A	XP_005257542.1:p.Leu361=
XM_005257486.3:c.986T>A	XP_005257543.1:p.Phe329Tyr
XM_006721965.2:c.903T>A	XP_006722028.1:p.Leu301=
XM_011524957.1:c.1521T>A	XP_011523259.1:p.Leu507=
XM_011524958.1:c.1604T>A	XP_011523260.1:p.Phe535Tyr
XM_011524959.1:c.*7T>A	XP_011523261.1:n.*7T>A
NM_001321268.1:c.986T>A	NP_001308197.1:p.Phe329Tyr
NM_001321269.1:c.1512T>A	NP_001308198.1:p.Leu504=
NM_001330397.1:c.*7T>A	NP_001317326.1:n.*7T>A
XM_005257485.4:c.1083T>A	XP_005257542.1:p.Leu361=
XM_006721965.3:c.903T>A	XP_006722028.1:p.Leu301=
XM_011524957.2:c.1521T>A	XP_011523259.1:p.Leu507=
XM_011524958.2:c.1604T>A	XP_011523260.1:p.Phe535Tyr
XM_011524959.2:c.*7T>A	XP_011523261.1:n.*7T>A
XM_017024805.1:c.1166T>A	XP_016880294.1:p.Phe389Tyr
XR_002958042.1:n.1523T>A
NM_001321268.2:c.986T>A	NP_001308197.1:p.Phe329Tyr
NM_001321269.2:c.1512T>A	NP_001308198.1:p.Leu504=
NM_001330397.2:c.*7T>A	NP_001317326.1:n.*7T>A
NM_017777.4:c.1595T>A MANE Select	NP_060247.2:p.Phe532Tyr