Canonical Allele Identifier: CA394554965

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729121-T-C
• MyVariant Identifiers: chr16:g.3779122T>C (hg19) ; chr16:g.3729121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729121T>C , CM000678.2:g.3729121T>C	GRCh38
NC_000016.9:g.3779122T>C , CM000678.1:g.3779122T>C	GRCh37
NC_000016.8:g.3719123T>C	NCBI36
NG_009873.1:g.156000A>G
NG_009873.2:g.156593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5926A>G MANE Select	ENSP00000262367.5:p.Asn1976Asp
ENST00000262367.9:c.5926A>G	ENSP00000262367.5:p.Asn1976Asp
ENST00000382070.7:c.5812A>G	ENSP00000371502.3:p.Asn1938Asp
NM_001079846.1:c.5812A>G	NP_001073315.1:p.Asn1938Asp
NM_004380.2:c.5926A>G	NP_004371.2:p.Asn1976Asp
XM_005255124.3:c.5881A>G	XP_005255181.1:p.Asn1961Asp
XM_005255125.3:c.5509A>G	XP_005255182.1:p.Asn1837Asp
XM_006720848.2:c.5665A>G	XP_006720911.1:p.Asn1889Asp
XM_011522380.1:c.5872A>G	XP_011520682.1:p.Asn1958Asp
XM_011522381.1:c.5173A>G	XP_011520683.1:p.Asn1725Asp
XM_005255124.4:c.5881A>G	XP_005255181.1:p.Asn1961Asp
XM_005255125.4:c.5509A>G	XP_005255182.1:p.Asn1837Asp
XM_006720848.3:c.5665A>G	XP_006720911.1:p.Asn1889Asp
XM_011522381.2:c.5173A>G	XP_011520683.1:p.Asn1725Asp
XM_017022944.1:c.5920A>G	XP_016878433.1:p.Asn1974Asp
NM_004380.3:c.5926A>G MANE Select	NP_004371.2:p.Asn1976Asp