Canonical Allele Identifier: CA2592721233

Gene: C1orf127

Linked Data

• dbSNP Id: rs2100801599
• gnomAD v3: 1-10972736-C-CT
• gnomAD v4: 1-10972736-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10972737dup , CM000663.2:g.10972737dup	GRCh38
NC_000001.10:g.11032794dup , CM000663.1:g.11032794dup	GRCh37
NC_000001.9:g.10955381dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377004.9:c.128-2648dup MANE Select	ENSP00000366203.4:n.128-2648dup
ENST00000377004.8:c.128-2648dup	ENSP00000366203.4:n.128-2648dup
ENST00000520253.1:c.61-2648dup
NM_001170754.1:c.128-2648dup	NP_001164225.1:n.128-2648dup
NM_001170754.2:c.128-2648dup MANE Select	NP_001164225.1:n.128-2648dup