Canonical Allele Identifier: CA271415

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 158375
• ClinVar RCV Id: RCV000145755
• dbSNP Id: rs587783495
• MyVariant Identifiers: chr16:g.3786767A>C (hg19) ; chr16:g.3736766A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4444T>G MANE Select	ENSP00000262367.5:p.Tyr1482Asp
ENST00000262367.9:c.4444T>G	ENSP00000262367.5:p.Tyr1482Asp
ENST00000382070.7:c.4330T>G	ENSP00000371502.3:p.Tyr1444Asp
ENST00000570939.2:c.3079T>G	ENSP00000461002.2:p.Tyr1027Asp
ENST00000571763.5:n.234T>G
ENST00000574740.1:n.265T>G
ENST00000576720.1:n.3267T>G
NM_001079846.1:c.4330T>G	NP_001073315.1:p.Tyr1444Asp
NM_004380.2:c.4444T>G	NP_004371.2:p.Tyr1482Asp
XM_005255124.3:c.4399T>G	XP_005255181.1:p.Tyr1467Asp
XM_005255125.3:c.4027T>G	XP_005255182.1:p.Tyr1343Asp
XM_006720848.2:c.4183T>G	XP_006720911.1:p.Tyr1395Asp
XM_011522380.1:c.4390T>G	XP_011520682.1:p.Tyr1464Asp
XM_011522381.1:c.3691T>G	XP_011520683.1:p.Tyr1231Asp
XM_005255124.4:c.4399T>G	XP_005255181.1:p.Tyr1467Asp
XM_005255125.4:c.4027T>G	XP_005255182.1:p.Tyr1343Asp
XM_006720848.3:c.4183T>G	XP_006720911.1:p.Tyr1395Asp
XM_011522381.2:c.3691T>G	XP_011520683.1:p.Tyr1231Asp
XM_017022944.1:c.4438T>G	XP_016878433.1:p.Tyr1480Asp
NM_004380.3:c.4444T>G MANE Select	NP_004371.2:p.Tyr1482Asp