Canonical Allele Identifier: CA1330216
Gene: GPR37L1 HGNC NCBI

Linked Data

dbSNP Id: rs749733623
ExAC: 1:202097524 ACTG / A
gnomAD v2: 1-202097524-ACTG-A
gnomAD v3: 1-202128396-ACTG-A
gnomAD v4: 1-202128396-ACTG-A
COSMIC: COSM902290
MyVariant Identifiers: chr1:g.202097528_202097530del (hg19) chr1:g.202097525_202097527del (hg19) chr1:g.202128400_202128402del (hg38) chr1:g.202128397_202128399del (hg38)
PubMed: PMID:28263302
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202128415_202128417del , CM000663.2:g.202128415_202128417del GRCh38
NC_000001.10:g.202097543_202097545del , CM000663.1:g.202097543_202097545del GRCh37
NC_000001.9:g.200364166_200364168del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682422.1:n.886_888del
ENST00000682545.1:c.*311_*313del ENSP00000508402.1:n.*311_*313del
ENST00000682887.1:c.1706_1708del ENSP00000506946.1:n.1706_1708del
ENST00000683302.1:c.1236_1238del ENSP00000507885.1:p.Cys413del
ENST00000683557.1:c.*137_*139del ENSP00000508029.1:n.*137_*139del
ENST00000367282.6:c.1305_1307del MANE Select ENSP00000356251.4:p.Cys436del
ENST00000367282.5:c.1305_1307del ENSP00000356251.4:p.Cys436del
NM_004767.3:c.1305_1307del NP_004758.3:p.Cys436del
XM_011510158.1:c.744_746del XP_011508460.1:p.Cys249del
NM_004767.4:c.1305_1307del NP_004758.3:p.Cys436del
XM_011510158.2:c.744_746del XP_011508460.1:p.Cys249del
NM_004767.5:c.1305_1307del MANE Select NP_004758.3:p.Cys436del
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