Canonical Allele Identifier: CA8669167

Gene: MKS1

Linked Data

• ClinVar Variation Id: 324159
• ClinVar RCV Id: RCV000291999 ; RCV000346858 ; RCV000592032 ; RCV001850733 ; RCV002524429 ; RCV004529556
• dbSNP Id: rs367625961
• ExAC: 17:56284531 G / A
• gnomAD v2: 17-56284531-G-A
• gnomAD v3: 17-58207170-G-A
• gnomAD v4: 17-58207170-G-A
• MyVariant Identifiers: chr17:g.56284531G>A (hg19) ; chr17:g.58207170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207170G>A , CM000679.2:g.58207170G>A	GRCh38
NC_000017.10:g.56284531G>A , CM000679.1:g.56284531G>A	GRCh37
NC_000017.9:g.53639530G>A	NCBI36
NG_013020.1:g.19443G>A
NG_013032.1:g.17436C>T , LRG_687:g.17436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1273+724C>T	ENSP00000316631.6:n.1273+724C>T
ENST00000393119.7:c.1322C>T MANE Select	ENSP00000376827.2:p.Thr441Met
ENST00000537529.7:c.893C>T	ENSP00000442096.3:p.Thr298Met
ENST00000675753.2:c.*941C>T	ENSP00000502156.1:n.*941C>T
ENST00000676787.1:c.1193C>T	ENSP00000503999.1:p.Thr398Met
ENST00000677111.1:c.*259C>T	ENSP00000504282.1:n.*259C>T
ENST00000677160.1:n.2596C>T
ENST00000677416.1:n.2022C>T
ENST00000677486.1:c.*666C>T	ENSP00000503852.1:n.*666C>T
ENST00000677709.1:n.2022C>T
ENST00000678011.1:n.1685C>T
ENST00000678432.1:c.*1096C>T	ENSP00000504452.1:n.*1096C>T
ENST00000678463.1:c.1322C>T	ENSP00000502984.1:p.Thr441Met
ENST00000678568.1:c.*729C>T	ENSP00000504754.1:n.*729C>T
ENST00000678641.1:c.*666C>T	ENSP00000503159.1:n.*666C>T
ENST00000678763.1:n.1100C>T
ENST00000313863.10:c.1273+724C>T	ENSP00000316631.6:n.1273+724C>T
ENST00000393119.6:c.1322C>T	ENSP00000376827.2:p.Thr441Met
ENST00000393120.6:c.*729C>T	ENSP00000376828.2:n.*729C>T
ENST00000537529.6:c.1292C>T	ENSP00000442096.2:p.Thr431Met
NM_001165927.1:c.1292C>T , LRG_687t2:c.1292C>T	NP_001159399.1:p.Thr431Met
NM_017777.3:c.1322C>T , LRG_687t1:c.1322C>T	NP_060247.2:p.Thr441Met
XM_005257483.3:c.1322C>T	XP_005257540.1:p.Thr441Met
XM_005257485.3:c.893C>T	XP_005257542.1:p.Thr298Met
XM_005257486.3:c.713C>T	XP_005257543.1:p.Thr238Met
XM_006721965.2:c.713C>T	XP_006722028.1:p.Thr238Met
XM_011524957.1:c.1331C>T	XP_011523259.1:p.Thr444Met
XM_011524958.1:c.1331C>T	XP_011523260.1:p.Thr444Met
XM_011524959.1:c.1282+724C>T	XP_011523261.1:n.1282+724C>T
NM_001321268.1:c.713C>T	NP_001308197.1:p.Thr238Met
NM_001321269.1:c.1322C>T	NP_001308198.1:p.Thr441Met
NM_001330397.1:c.1273+724C>T	NP_001317326.1:n.1273+724C>T
XM_005257485.4:c.893C>T	XP_005257542.1:p.Thr298Met
XM_006721965.3:c.713C>T	XP_006722028.1:p.Thr238Met
XM_011524957.2:c.1331C>T	XP_011523259.1:p.Thr444Met
XM_011524958.2:c.1331C>T	XP_011523260.1:p.Thr444Met
XM_011524959.2:c.1282+724C>T	XP_011523261.1:n.1282+724C>T
XM_017024805.1:c.893C>T	XP_016880294.1:p.Thr298Met
XR_002958042.1:n.1333C>T
NM_001321268.2:c.713C>T	NP_001308197.1:p.Thr238Met
NM_001321269.2:c.1322C>T	NP_001308198.1:p.Thr441Met
NM_001330397.2:c.1273+724C>T	NP_001317326.1:n.1273+724C>T
NM_017777.4:c.1322C>T MANE Select	NP_060247.2:p.Thr441Met