Canonical Allele Identifier: CA400324607

Gene: MKS1

Linked Data

• MyVariant Identifiers: chr17:g.56283741C>G (hg19) ; chr17:g.58206380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206380C>G , CM000679.2:g.58206380C>G	GRCh38
NC_000017.10:g.56283741C>G , CM000679.1:g.56283741C>G	GRCh37
NC_000017.9:g.53638740C>G	NCBI36
NG_013020.1:g.18653C>G
NG_013032.1:g.18226G>C , LRG_687:g.18226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1274G>C	ENSP00000316631.6:p.Gly425Ala
ENST00000393119.7:c.1491G>C MANE Select	ENSP00000376827.2:p.Arg497Ser
ENST00000537529.7:c.1062G>C	ENSP00000442096.3:p.Arg354Ser
ENST00000675753.2:c.*1110G>C	ENSP00000502156.1:n.*1110G>C
ENST00000676787.1:c.1362G>C	ENSP00000503999.1:p.Arg454Ser
ENST00000677111.1:c.*965G>C	ENSP00000504282.1:n.*965G>C
ENST00000677160.1:n.2765G>C
ENST00000677416.1:n.2812G>C
ENST00000677486.1:c.*835G>C	ENSP00000503852.1:n.*835G>C
ENST00000677709.1:n.2191G>C
ENST00000678011.1:n.2391G>C
ENST00000678432.1:c.*1265G>C	ENSP00000504452.1:n.*1265G>C
ENST00000678463.1:c.1408G>C	ENSP00000502984.1:p.Gly470Arg
ENST00000678568.1:c.*815G>C	ENSP00000504754.1:n.*815G>C
ENST00000678641.1:c.*835G>C	ENSP00000503159.1:n.*835G>C
ENST00000678763.1:n.1806G>C
ENST00000313863.10:c.1274G>C	ENSP00000316631.6:p.Gly425Ala
ENST00000393119.6:c.1491G>C	ENSP00000376827.2:p.Arg497Ser
ENST00000393120.6:c.*898G>C	ENSP00000376828.2:n.*898G>C
ENST00000537529.6:c.1461G>C	ENSP00000442096.2:p.Arg487Ser
ENST00000583577.1:n.317G>C
NM_001165927.1:c.1461G>C , LRG_687t2:c.1461G>C	NP_001159399.1:p.Arg487Ser
NM_017777.3:c.1491G>C , LRG_687t1:c.1491G>C	NP_060247.2:p.Arg497Ser
XM_005257483.3:c.1408G>C	XP_005257540.1:p.Gly470Arg
XM_005257485.3:c.979G>C	XP_005257542.1:p.Gly327Arg
XM_005257486.3:c.882G>C	XP_005257543.1:p.Arg294Ser
XM_006721965.2:c.799G>C	XP_006722028.1:p.Gly267Arg
XM_011524957.1:c.1417G>C	XP_011523259.1:p.Gly473Arg
XM_011524958.1:c.1500G>C	XP_011523260.1:p.Arg500Ser
XM_011524959.1:c.1283G>C	XP_011523261.1:p.Gly428Ala
NM_001321268.1:c.882G>C	NP_001308197.1:p.Arg294Ser
NM_001321269.1:c.1408G>C	NP_001308198.1:p.Gly470Arg
NM_001330397.1:c.1274G>C	NP_001317326.1:p.Gly425Ala
XM_005257485.4:c.979G>C	XP_005257542.1:p.Gly327Arg
XM_006721965.3:c.799G>C	XP_006722028.1:p.Gly267Arg
XM_011524957.2:c.1417G>C	XP_011523259.1:p.Gly473Arg
XM_011524958.2:c.1500G>C	XP_011523260.1:p.Arg500Ser
XM_011524959.2:c.1283G>C	XP_011523261.1:p.Gly428Ala
XM_017024805.1:c.1062G>C	XP_016880294.1:p.Arg354Ser
XR_002958042.1:n.1419G>C
NM_001321268.2:c.882G>C	NP_001308197.1:p.Arg294Ser
NM_001321269.2:c.1408G>C	NP_001308198.1:p.Gly470Arg
NM_001330397.2:c.1274G>C	NP_001317326.1:p.Gly425Ala
NM_017777.4:c.1491G>C MANE Select	NP_060247.2:p.Arg497Ser