Canonical Allele Identifier: CA1042290844
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1694639770
gnomAD v3: 2-216028996-G-A
gnomAD v4: 2-216028996-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028996G>A , CM000664.2:g.216028996G>A GRCh38
NC_000002.11:g.216893719G>A , CM000664.1:g.216893719G>A GRCh37
NC_000002.10:g.216601964G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3793C>T (MREG) ENSP00000404470.1:n.-68+3793C>T
ENST00000424992.5:c.-68+4966C>T (MREG) ENSP00000413302.1:n.-68+4966C>T
ENST00000439791.5:c.-68+4687C>T (MREG) ENSP00000411076.1:n.-68+4687C>T
ENST00000442122.5:c.*440+10195C>T (PECR) ENSP00000395512.1:n.*440+10195C>T
NM_001372189.1:c.-68+4966C>T (MREG) NP_001359118.1:n.-68+4966C>T
NM_001372190.1:c.-68+4687C>T (MREG) NP_001359119.1:n.-68+4687C>T
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