Canonical Allele Identifier: CA394555303

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1209412
• ClinVar RCV Id: RCV001578063 ; RCV002359190 ; RCV002568505 ; RCV002495924
• dbSNP Id: rs1321085895
• gnomAD v3: 16-3729211-G-C
• gnomAD v4: 16-3729211-G-C
• MyVariant Identifiers: chr16:g.3779212G>C (hg19) ; chr16:g.3729211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729211G>C , CM000678.2:g.3729211G>C	GRCh38
NC_000016.9:g.3779212G>C , CM000678.1:g.3779212G>C	GRCh37
NC_000016.8:g.3719213G>C	NCBI36
NG_009873.1:g.155910C>G
NG_009873.2:g.156503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5836C>G MANE Select	ENSP00000262367.5:p.Pro1946Ala
ENST00000262367.9:c.5836C>G	ENSP00000262367.5:p.Pro1946Ala
ENST00000382070.7:c.5722C>G	ENSP00000371502.3:p.Pro1908Ala
NM_001079846.1:c.5722C>G	NP_001073315.1:p.Pro1908Ala
NM_004380.2:c.5836C>G	NP_004371.2:p.Pro1946Ala
XM_005255124.3:c.5791C>G	XP_005255181.1:p.Pro1931Ala
XM_005255125.3:c.5419C>G	XP_005255182.1:p.Pro1807Ala
XM_006720848.2:c.5575C>G	XP_006720911.1:p.Pro1859Ala
XM_011522380.1:c.5782C>G	XP_011520682.1:p.Pro1928Ala
XM_011522381.1:c.5083C>G	XP_011520683.1:p.Pro1695Ala
XM_005255124.4:c.5791C>G	XP_005255181.1:p.Pro1931Ala
XM_005255125.4:c.5419C>G	XP_005255182.1:p.Pro1807Ala
XM_006720848.3:c.5575C>G	XP_006720911.1:p.Pro1859Ala
XM_011522381.2:c.5083C>G	XP_011520683.1:p.Pro1695Ala
XM_017022944.1:c.5830C>G	XP_016878433.1:p.Pro1944Ala
NM_004380.3:c.5836C>G MANE Select	NP_004371.2:p.Pro1946Ala