Canonical Allele Identifier: CA10458561

Gene: MAGT1

Linked Data

• ClinVar Variation Id: 2582378
• ClinVar RCV Id: RCV003333359 ; RCV003525390
• dbSNP Id: rs781860795
• ExAC: X:77126398 G / C
• gnomAD v2: X-77126398-G-C
• gnomAD v4: X-77870901-G-C
• MyVariant Identifiers: chrX:g.77126398G>C (hg19) ; chrX:g.77870901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77870901G>C , CM000685.2:g.77870901G>C	GRCh38
NC_000023.10:g.77126398G>C , CM000685.1:g.77126398G>C	GRCh37
NC_000023.9:g.77013054G>C	NCBI36
NG_016390.1:g.29668C>G , LRG_353:g.29668C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358075.11:c.297C>G	ENSP00000354649.6:p.Ile99Met
ENST00000685002.1:n.324C>G
ENST00000685015.1:c.297C>G	ENSP00000509969.1:p.Ile99Met
ENST00000685353.1:c.297C>G	ENSP00000510266.1:p.Ile99Met
ENST00000688650.1:c.297C>G	ENSP00000509785.1:p.Ile99Met
ENST00000689137.1:c.195C>G	ENSP00000509458.1:p.Ile65Met
ENST00000689519.1:c.297C>G	ENSP00000509887.1:p.Ile99Met
ENST00000691172.1:c.195C>G	ENSP00000508529.1:p.Ile65Met
ENST00000691993.1:c.393C>G	ENSP00000509067.1:p.Ile131Met
ENST00000692161.1:c.297C>G	ENSP00000509676.1:p.Ile99Met
ENST00000618282.5:c.297C>G MANE Select	ENSP00000480732.1:p.Ile99Met
ENST00000358075.10:c.393C>G	ENSP00000354649.5:p.Ile131Met
ENST00000373336.3:c.297C>G	ENSP00000362433.3:p.Ile99Met
ENST00000476168.1:n.311C>G
ENST00000610432.4:c.393C>G	ENSP00000478379.1:p.Ile131Met
ENST00000618282.4:c.297C>G	ENSP00000480732.1:p.Ile99Met
NM_032121.5:c.393C>G , LRG_353t1:c.393C>G	NP_115497.4:p.Ile131Met
NM_001367916.1:c.297C>G MANE Select	NP_001354845.1:p.Ile99Met