Canonical Allele Identifier: CA149366

Gene: MAGT1

Linked Data

• ClinVar Variation Id: 96213
• ClinVar RCV Id: RCV000082292 ; RCV000990877 ; RCV002490726
• dbSNP Id: rs145245774
• ExAC: X:77086362 A / C
• gnomAD v2: X-77086362-A-C
• gnomAD v3: X-77830865-A-C
• gnomAD v4: X-77830865-A-C
• MyVariant Identifiers: chrX:g.77086362A>C (hg19) ; chrX:g.77830865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77830865A>C , CM000685.2:g.77830865A>C	GRCh38
NC_000023.10:g.77086362A>C , CM000685.1:g.77086362A>C	GRCh37
NC_000023.9:g.76973018A>C	NCBI36
NG_016390.1:g.69704T>G , LRG_353:g.69704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358075.11:c.932T>G	ENSP00000354649.6:p.Val311Gly
ENST00000685015.1:c.902-4056T>G	ENSP00000509969.1:n.902-4056T>G
ENST00000685353.1:c.812-1630T>G	ENSP00000510266.1:n.812-1630T>G
ENST00000688650.1:c.842T>G	ENSP00000509785.1:p.Val281Gly
ENST00000689137.1:c.830T>G	ENSP00000509458.1:p.Val277Gly
ENST00000689519.1:c.902-1630T>G	ENSP00000509887.1:n.902-1630T>G
ENST00000691172.1:c.830T>G	ENSP00000508529.1:p.Val277Gly
ENST00000691993.1:c.1028T>G	ENSP00000509067.1:p.Val343Gly
ENST00000692161.1:c.650T>G	ENSP00000509676.1:p.Val217Gly
ENST00000618282.5:c.932T>G MANE Select	ENSP00000480732.1:p.Val311Gly
ENST00000358075.10:c.1028T>G	ENSP00000354649.5:p.Val343Gly
ENST00000610432.4:c.1028T>G	ENSP00000478379.1:p.Val343Gly
ENST00000618282.4:c.932T>G	ENSP00000480732.1:p.Val311Gly
NM_032121.5:c.1028T>G , LRG_353t1:c.1028T>G	NP_115497.4:p.Val343Gly
NM_001367916.1:c.932T>G MANE Select	NP_001354845.1:p.Val311Gly