Canonical Allele Identifier: CA2638958958

Gene: MKS1

Linked Data

• gnomAD v4: 17-58206076-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206076G>T , CM000679.2:g.58206076G>T	GRCh38
NC_000017.10:g.56283437G>T , CM000679.1:g.56283437G>T	GRCh37
NC_000017.9:g.53638436G>T	NCBI36
NG_013020.1:g.18349G>T
NG_013032.1:g.18530C>A , LRG_687:g.18530C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*95C>A	ENSP00000316631.6:n.*95C>A
ENST00000393119.7:c.*3C>A MANE Select	ENSP00000376827.2:n.*3C>A
ENST00000537529.7:c.*3C>A	ENSP00000442096.3:n.*3C>A
ENST00000675753.2:c.*1302C>A	ENSP00000502156.1:n.*1302C>A
ENST00000676787.1:c.*3C>A	ENSP00000503999.1:n.*3C>A
ENST00000677111.1:c.*1157C>A	ENSP00000504282.1:n.*1157C>A
ENST00000677160.1:n.2957C>A
ENST00000677416.1:n.3004C>A
ENST00000677486.1:c.*1027C>A	ENSP00000503852.1:n.*1027C>A
ENST00000677709.1:n.2383C>A
ENST00000678011.1:n.2583C>A
ENST00000678432.1:c.*1457C>A	ENSP00000504452.1:n.*1457C>A
ENST00000678463.1:c.1600C>A	ENSP00000502984.1:p.His534Asn
ENST00000678568.1:c.*1007C>A	ENSP00000504754.1:n.*1007C>A
ENST00000678641.1:c.*1027C>A	ENSP00000503159.1:n.*1027C>A
ENST00000678763.1:n.1998C>A
ENST00000313863.10:c.*95C>A	ENSP00000316631.6:n.*95C>A
ENST00000393119.6:c.*3C>A	ENSP00000376827.2:n.*3C>A
ENST00000393120.6:c.*1090C>A	ENSP00000376828.2:n.*1090C>A
ENST00000537529.6:c.*3C>A	ENSP00000442096.2:n.*3C>A
ENST00000583577.1:n.509C>A
NM_001165927.1:c.*3C>A , LRG_687t2:c.*3C>A	NP_001159399.1:n.*3C>A
NM_017777.3:c.*3C>A , LRG_687t1:c.*3C>A	NP_060247.2:n.*3C>A
XM_005257483.3:c.1600C>A	XP_005257540.1:p.His534Asn
XM_005257485.3:c.1171C>A	XP_005257542.1:p.His391Asn
XM_005257486.3:c.*3C>A	XP_005257543.1:n.*3C>A
XM_006721965.2:c.991C>A	XP_006722028.1:p.His331Asn
XM_011524957.1:c.1609C>A	XP_011523259.1:p.His537Asn
XM_011524958.1:c.*3C>A	XP_011523260.1:n.*3C>A
XM_011524959.1:c.*95C>A	XP_011523261.1:n.*95C>A
NM_001321268.1:c.*3C>A	NP_001308197.1:n.*3C>A
NM_001321269.1:c.1600C>A	NP_001308198.1:p.His534Asn
NM_001330397.1:c.*95C>A	NP_001317326.1:n.*95C>A
XM_005257485.4:c.1171C>A	XP_005257542.1:p.His391Asn
XM_006721965.3:c.991C>A	XP_006722028.1:p.His331Asn
XM_011524957.2:c.1609C>A	XP_011523259.1:p.His537Asn
XM_011524958.2:c.*3C>A	XP_011523260.1:n.*3C>A
XM_011524959.2:c.*95C>A	XP_011523261.1:n.*95C>A
XM_017024805.1:c.*3C>A	XP_016880294.1:n.*3C>A
XR_002958042.1:n.1611C>A
NM_001321268.2:c.*3C>A	NP_001308197.1:n.*3C>A
NM_001321269.2:c.1600C>A	NP_001308198.1:p.His534Asn
NM_001330397.2:c.*95C>A	NP_001317326.1:n.*95C>A
NM_017777.4:c.*3C>A MANE Select	NP_060247.2:n.*3C>A