Canonical Allele Identifier: CA2638963926

Gene: MKS1 LPO

Linked Data

• gnomAD v4: 17-58219300-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58219300G>T , CM000679.2:g.58219300G>T	GRCh38
NC_000017.10:g.56296661G>T , CM000679.1:g.56296661G>T	GRCh37
NC_000017.9:g.53651660G>T	NCBI36
NG_013032.1:g.5306C>A , LRG_687:g.5306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537529.7:c.-350+162C>A (MKS1)	ENSP00000442096.3:n.-350+162C>A
ENST00000393119.6:c.-70C>A (MKS1)	ENSP00000376827.2:n.-70C>A
ENST00000537529.6:c.50+162C>A (MKS1)	ENSP00000442096.2:n.50+162C>A
ENST00000580127.5:c.-70C>A (MKS1)	ENSP00000462423.1:n.-70C>A
ENST00000582328.5:c.-289+483G>T (LPO)	ENSP00000464636.1:n.-289+483G>T
NM_001165927.1:c.50+162C>A , LRG_687t2:c.50+162C>A (MKS1)	NP_001159399.1:n.50+162C>A
NM_017777.3:c.-70C>A , LRG_687t1:c.-70C>A (MKS1)	NP_060247.2:n.-70C>A
NM_001321268.1:c.-581C>A (MKS1)	NP_001308197.1:n.-581C>A
NM_001321269.1:c.-70C>A (MKS1)	NP_001308198.1:n.-70C>A
NM_001330397.1:c.-70C>A (MKS1)	NP_001317326.1:n.-70C>A