Canonical Allele Identifier: CA17879845

Gene: C1orf127

Linked Data

• dbSNP Id: rs113292686
• gnomAD v2: 1-11033002-A-C
• gnomAD v3: 1-10972945-A-C
• gnomAD v4: 1-10972945-A-C
• MyVariant Identifiers: chr1:g.11033002A>C (hg19) ; chr1:g.10972945A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10972945A>C , CM000663.2:g.10972945A>C	GRCh38
NC_000001.10:g.11033002A>C , CM000663.1:g.11033002A>C	GRCh37
NC_000001.9:g.10955589A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000377004.9:c.128-2856T>G MANE Select	ENSP00000366203.4:n.128-2856T>G
ENST00000377004.8:c.128-2856T>G	ENSP00000366203.4:n.128-2856T>G
ENST00000520253.1:c.61-2856T>G
NM_001170754.1:c.128-2856T>G	NP_001164225.1:n.128-2856T>G
NM_001170754.2:c.128-2856T>G MANE Select	NP_001164225.1:n.128-2856T>G