Canonical Allele Identifier: CA394563921

Gene: CREBBP

Linked Data

• dbSNP Id: rs587783495
• gnomAD v4: 16-3736766-A-G
• COSMIC: COSM88741
• MyVariant Identifiers: chr16:g.3786767A>G (hg19) ; chr16:g.3736766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736766A>G , CM000678.2:g.3736766A>G	GRCh38
NC_000016.9:g.3786767A>G , CM000678.1:g.3786767A>G	GRCh37
NC_000016.8:g.3726768A>G	NCBI36
NG_009873.1:g.148355T>C
NG_009873.2:g.148948T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4444T>C MANE Select	ENSP00000262367.5:p.Tyr1482His
ENST00000262367.9:c.4444T>C	ENSP00000262367.5:p.Tyr1482His
ENST00000382070.7:c.4330T>C	ENSP00000371502.3:p.Tyr1444His
ENST00000570939.2:c.3079T>C	ENSP00000461002.2:p.Tyr1027His
ENST00000571763.5:n.234T>C
ENST00000574740.1:n.265T>C
ENST00000576720.1:n.3267T>C
NM_001079846.1:c.4330T>C	NP_001073315.1:p.Tyr1444His
NM_004380.2:c.4444T>C	NP_004371.2:p.Tyr1482His
XM_005255124.3:c.4399T>C	XP_005255181.1:p.Tyr1467His
XM_005255125.3:c.4027T>C	XP_005255182.1:p.Tyr1343His
XM_006720848.2:c.4183T>C	XP_006720911.1:p.Tyr1395His
XM_011522380.1:c.4390T>C	XP_011520682.1:p.Tyr1464His
XM_011522381.1:c.3691T>C	XP_011520683.1:p.Tyr1231His
XM_005255124.4:c.4399T>C	XP_005255181.1:p.Tyr1467His
XM_005255125.4:c.4027T>C	XP_005255182.1:p.Tyr1343His
XM_006720848.3:c.4183T>C	XP_006720911.1:p.Tyr1395His
XM_011522381.2:c.3691T>C	XP_011520683.1:p.Tyr1231His
XM_017022944.1:c.4438T>C	XP_016878433.1:p.Tyr1480His
NM_004380.3:c.4444T>C MANE Select	NP_004371.2:p.Tyr1482His