Canonical Allele Identifier: CA521155596
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs1229444875
gnomAD v2: 1-11033211-C-T
gnomAD v3: 1-10973154-C-T
gnomAD v4: 1-10973154-C-T
MyVariant Identifiers: chr1:g.11033211C>T (hg19) chr1:g.10973154C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10973154C>T , CM000663.2:g.10973154C>T GRCh38
NC_000001.10:g.11033211C>T , CM000663.1:g.11033211C>T GRCh37
NC_000001.9:g.10955798C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377004.9:c.127+3002G>A MANE Select ENSP00000366203.4:n.127+3002G>A
ENST00000377004.8:c.127+3002G>A ENSP00000366203.4:n.127+3002G>A
ENST00000520253.1:c.60+3002G>A
NM_001170754.1:c.127+3002G>A NP_001164225.1:n.127+3002G>A
NM_001170754.2:c.127+3002G>A MANE Select NP_001164225.1:n.127+3002G>A
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