Canonical Allele Identifier: CA2267607667

Gene: MKS1 LPO

Linked Data

• dbSNP Id: rs1969460153
• gnomAD v4: 17-58219283-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58219283T>C , CM000679.2:g.58219283T>C	GRCh38
NC_000017.10:g.56296644T>C , CM000679.1:g.56296644T>C	GRCh37
NC_000017.9:g.53651643T>C	NCBI36
NG_013032.1:g.5323A>G , LRG_687:g.5323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537529.7:c.-350+179A>G (MKS1)	ENSP00000442096.3:n.-350+179A>G
ENST00000393119.6:c.-53A>G (MKS1)	ENSP00000376827.2:n.-53A>G
ENST00000537529.6:c.50+179A>G (MKS1)	ENSP00000442096.2:n.50+179A>G
ENST00000580127.5:c.-53A>G (MKS1)	ENSP00000462423.1:n.-53A>G
ENST00000582328.5:c.-289+466T>C (LPO)	ENSP00000464636.1:n.-289+466T>C
NM_001165927.1:c.50+179A>G , LRG_687t2:c.50+179A>G (MKS1)	NP_001159399.1:n.50+179A>G
NM_017777.3:c.-53A>G , LRG_687t1:c.-53A>G (MKS1)	NP_060247.2:n.-53A>G
XM_005257483.3:c.-53A>G (MKS1)	XP_005257540.1:n.-53A>G
NM_001321268.1:c.-564A>G (MKS1)	NP_001308197.1:n.-564A>G
NM_001321269.1:c.-53A>G (MKS1)	NP_001308198.1:n.-53A>G
NM_001330397.1:c.-53A>G (MKS1)	NP_001317326.1:n.-53A>G