Canonical Allele Identifier: CA276971792

Gene: CREBBP

Linked Data

• dbSNP Id: rs1010580725
• gnomAD v4: 16-3728973-G-A
• MyVariant Identifiers: chr16:g.3778974G>A (hg19) ; chr16:g.3728973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728973G>A , CM000678.2:g.3728973G>A	GRCh38
NC_000016.9:g.3778974G>A , CM000678.1:g.3778974G>A	GRCh37
NC_000016.8:g.3718975G>A	NCBI36
NG_009873.1:g.156148C>T
NG_009873.2:g.156741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6074C>T MANE Select	ENSP00000262367.5:p.Pro2025Leu
ENST00000262367.9:c.6074C>T	ENSP00000262367.5:p.Pro2025Leu
ENST00000382070.7:c.5960C>T	ENSP00000371502.3:p.Pro1987Leu
NM_001079846.1:c.5960C>T	NP_001073315.1:p.Pro1987Leu
NM_004380.2:c.6074C>T	NP_004371.2:p.Pro2025Leu
XM_005255124.3:c.6029C>T	XP_005255181.1:p.Pro2010Leu
XM_005255125.3:c.5657C>T	XP_005255182.1:p.Pro1886Leu
XM_006720848.2:c.5813C>T	XP_006720911.1:p.Pro1938Leu
XM_011522380.1:c.6020C>T	XP_011520682.1:p.Pro2007Leu
XM_011522381.1:c.5321C>T	XP_011520683.1:p.Pro1774Leu
XM_005255124.4:c.6029C>T	XP_005255181.1:p.Pro2010Leu
XM_005255125.4:c.5657C>T	XP_005255182.1:p.Pro1886Leu
XM_006720848.3:c.5813C>T	XP_006720911.1:p.Pro1938Leu
XM_011522381.2:c.5321C>T	XP_011520683.1:p.Pro1774Leu
XM_017022944.1:c.6068C>T	XP_016878433.1:p.Pro2023Leu
NM_004380.3:c.6074C>T MANE Select	NP_004371.2:p.Pro2025Leu