Canonical Allele Identifier: CA394554486

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051832309
• gnomAD v4: 16-3729007-G-C
• MyVariant Identifiers: chr16:g.3779008G>C (hg19) ; chr16:g.3729007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729007G>C , CM000678.2:g.3729007G>C	GRCh38
NC_000016.9:g.3779008G>C , CM000678.1:g.3779008G>C	GRCh37
NC_000016.8:g.3719009G>C	NCBI36
NG_009873.1:g.156114C>G
NG_009873.2:g.156707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6040C>G MANE Select	ENSP00000262367.5:p.Pro2014Ala
ENST00000262367.9:c.6040C>G	ENSP00000262367.5:p.Pro2014Ala
ENST00000382070.7:c.5926C>G	ENSP00000371502.3:p.Pro1976Ala
NM_001079846.1:c.5926C>G	NP_001073315.1:p.Pro1976Ala
NM_004380.2:c.6040C>G	NP_004371.2:p.Pro2014Ala
XM_005255124.3:c.5995C>G	XP_005255181.1:p.Pro1999Ala
XM_005255125.3:c.5623C>G	XP_005255182.1:p.Pro1875Ala
XM_006720848.2:c.5779C>G	XP_006720911.1:p.Pro1927Ala
XM_011522380.1:c.5986C>G	XP_011520682.1:p.Pro1996Ala
XM_011522381.1:c.5287C>G	XP_011520683.1:p.Pro1763Ala
XM_005255124.4:c.5995C>G	XP_005255181.1:p.Pro1999Ala
XM_005255125.4:c.5623C>G	XP_005255182.1:p.Pro1875Ala
XM_006720848.3:c.5779C>G	XP_006720911.1:p.Pro1927Ala
XM_011522381.2:c.5287C>G	XP_011520683.1:p.Pro1763Ala
XM_017022944.1:c.6034C>G	XP_016878433.1:p.Pro2012Ala
NM_004380.3:c.6040C>G MANE Select	NP_004371.2:p.Pro2014Ala