Canonical Allele Identifier: CA394563542

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 497642
• ClinVar RCV Id: RCV000598406
• dbSNP Id: rs1555473105
• MyVariant Identifiers: chr16:g.3786702G>C (hg19) ; chr16:g.3736701G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736701G>C , CM000678.2:g.3736701G>C	GRCh38
NC_000016.9:g.3786702G>C , CM000678.1:g.3786702G>C	GRCh37
NC_000016.8:g.3726703G>C	NCBI36
NG_009873.1:g.148420C>G
NG_009873.2:g.149013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4509C>G MANE Select	ENSP00000262367.5:p.Tyr1503Ter
ENST00000262367.9:c.4509C>G	ENSP00000262367.5:p.Tyr1503Ter
ENST00000382070.7:c.4395C>G	ENSP00000371502.3:p.Tyr1465Ter
ENST00000570939.2:c.3144C>G	ENSP00000461002.2:p.Tyr1048Ter
ENST00000571763.5:n.299C>G
ENST00000574740.1:n.330C>G
ENST00000576720.1:n.3332C>G
NM_001079846.1:c.4395C>G	NP_001073315.1:p.Tyr1465Ter
NM_004380.2:c.4509C>G	NP_004371.2:p.Tyr1503Ter
XM_005255124.3:c.4464C>G	XP_005255181.1:p.Tyr1488Ter
XM_005255125.3:c.4092C>G	XP_005255182.1:p.Tyr1364Ter
XM_006720848.2:c.4248C>G	XP_006720911.1:p.Tyr1416Ter
XM_011522380.1:c.4455C>G	XP_011520682.1:p.Tyr1485Ter
XM_011522381.1:c.3756C>G	XP_011520683.1:p.Tyr1252Ter
XM_005255124.4:c.4464C>G	XP_005255181.1:p.Tyr1488Ter
XM_005255125.4:c.4092C>G	XP_005255182.1:p.Tyr1364Ter
XM_006720848.3:c.4248C>G	XP_006720911.1:p.Tyr1416Ter
XM_011522381.2:c.3756C>G	XP_011520683.1:p.Tyr1252Ter
XM_017022944.1:c.4503C>G	XP_016878433.1:p.Tyr1501Ter
NM_004380.3:c.4509C>G MANE Select	NP_004371.2:p.Tyr1503Ter