Canonical Allele Identifier: CA627142959

Gene: MKS1

Linked Data

• dbSNP Id: rs1207893133
• gnomAD v2: 17-56283433-C-T
• gnomAD v4: 17-58206072-C-T
• MyVariant Identifiers: chr17:g.56283433C>T (hg19) ; chr17:g.58206072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206072C>T , CM000679.2:g.58206072C>T	GRCh38
NC_000017.10:g.56283433C>T , CM000679.1:g.56283433C>T	GRCh37
NC_000017.9:g.53638432C>T	NCBI36
NG_013020.1:g.18345C>T
NG_013032.1:g.18534G>A , LRG_687:g.18534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*99G>A	ENSP00000316631.6:n.*99G>A
ENST00000393119.7:c.*7G>A MANE Select	ENSP00000376827.2:n.*7G>A
ENST00000537529.7:c.*7G>A	ENSP00000442096.3:n.*7G>A
ENST00000675753.2:c.*1306G>A	ENSP00000502156.1:n.*1306G>A
ENST00000676787.1:c.*7G>A	ENSP00000503999.1:n.*7G>A
ENST00000677111.1:c.*1161G>A	ENSP00000504282.1:n.*1161G>A
ENST00000677160.1:n.2961G>A
ENST00000677416.1:n.3008G>A
ENST00000677486.1:c.*1031G>A	ENSP00000503852.1:n.*1031G>A
ENST00000677709.1:n.2387G>A
ENST00000678011.1:n.2587G>A
ENST00000678432.1:c.*1461G>A	ENSP00000504452.1:n.*1461G>A
ENST00000678463.1:c.1604G>A	ENSP00000502984.1:p.Ser535Asn
ENST00000678568.1:c.*1011G>A	ENSP00000504754.1:n.*1011G>A
ENST00000678641.1:c.*1031G>A	ENSP00000503159.1:n.*1031G>A
ENST00000678763.1:n.2002G>A
ENST00000313863.10:c.*99G>A	ENSP00000316631.6:n.*99G>A
ENST00000393119.6:c.*7G>A	ENSP00000376827.2:n.*7G>A
ENST00000393120.6:c.*1094G>A	ENSP00000376828.2:n.*1094G>A
ENST00000537529.6:c.*7G>A	ENSP00000442096.2:n.*7G>A
ENST00000583577.1:n.513G>A
NM_001165927.1:c.*7G>A , LRG_687t2:c.*7G>A	NP_001159399.1:n.*7G>A
NM_017777.3:c.*7G>A , LRG_687t1:c.*7G>A	NP_060247.2:n.*7G>A
XM_005257483.3:c.1604G>A	XP_005257540.1:p.Ser535Asn
XM_005257485.3:c.1175G>A	XP_005257542.1:p.Ser392Asn
XM_005257486.3:c.*7G>A	XP_005257543.1:n.*7G>A
XM_006721965.2:c.995G>A	XP_006722028.1:p.Ser332Asn
XM_011524957.1:c.1613G>A	XP_011523259.1:p.Ser538Asn
XM_011524958.1:c.*7G>A	XP_011523260.1:n.*7G>A
XM_011524959.1:c.*99G>A	XP_011523261.1:n.*99G>A
NM_001321268.1:c.*7G>A	NP_001308197.1:n.*7G>A
NM_001321269.1:c.1604G>A	NP_001308198.1:p.Ser535Asn
NM_001330397.1:c.*99G>A	NP_001317326.1:n.*99G>A
XM_005257485.4:c.1175G>A	XP_005257542.1:p.Ser392Asn
XM_006721965.3:c.995G>A	XP_006722028.1:p.Ser332Asn
XM_011524957.2:c.1613G>A	XP_011523259.1:p.Ser538Asn
XM_011524958.2:c.*7G>A	XP_011523260.1:n.*7G>A
XM_011524959.2:c.*99G>A	XP_011523261.1:n.*99G>A
XM_017024805.1:c.*7G>A	XP_016880294.1:n.*7G>A
XR_002958042.1:n.1615G>A
NM_001321268.2:c.*7G>A	NP_001308197.1:n.*7G>A
NM_001321269.2:c.1604G>A	NP_001308198.1:p.Ser535Asn
NM_001330397.2:c.*99G>A	NP_001317326.1:n.*99G>A
NM_017777.4:c.*7G>A MANE Select	NP_060247.2:n.*7G>A