Canonical Allele Identifier: CA381658162

Gene: CCND1

Linked Data

• dbSNP Id: rs2120109873
• gnomAD v4: 11-69648111-G-A
• MyVariant Identifiers: chr11:g.69462879G>A (hg19) ; chr11:g.69648111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69648111G>A , CM000673.2:g.69648111G>A	GRCh38
NC_000011.9:g.69462879G>A , CM000673.1:g.69462879G>A	GRCh37
NC_000011.8:g.69172060G>A	NCBI36
NG_007375.1:g.12007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227507.3:c.692G>A MANE Select	ENSP00000227507.2:p.Arg231His
ENST00000227507.2:c.692G>A	ENSP00000227507.2:p.Arg231His
ENST00000536559.1:c.*112G>A	ENSP00000438482.1:n.*112G>A
ENST00000542367.1:n.155G>A
ENST00000545484.1:n.398G>A
NM_053056.2:c.692G>A	NP_444284.1:p.Arg231His
XM_006718653.2:c.716G>A	XP_006718716.1:p.Arg239His
NM_053056.3:c.692G>A MANE Select	NP_444284.1:p.Arg231His