Canonical Allele Identifier: CA243767

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 196699
• ClinVar RCV Id: RCV000177559 ; RCV001254974 ; RCV003416090 ; RCV003593928
• dbSNP Id: rs557611780
• gnomAD v2: 16-3779205-G-A
• gnomAD v3: 16-3729204-G-A
• gnomAD v4: 16-3729204-G-A
• MyVariant Identifiers: chr16:g.3779205G>A (hg19) ; chr16:g.3729204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729204G>A , CM000678.2:g.3729204G>A	GRCh38
NC_000016.9:g.3779205G>A , CM000678.1:g.3779205G>A	GRCh37
NC_000016.8:g.3719206G>A	NCBI36
NG_009873.1:g.155917C>T
NG_009873.2:g.156510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5843C>T MANE Select	ENSP00000262367.5:p.Pro1948Leu
ENST00000262367.9:c.5843C>T	ENSP00000262367.5:p.Pro1948Leu
ENST00000382070.7:c.5729C>T	ENSP00000371502.3:p.Pro1910Leu
NM_001079846.1:c.5729C>T	NP_001073315.1:p.Pro1910Leu
NM_004380.2:c.5843C>T	NP_004371.2:p.Pro1948Leu
XM_005255124.3:c.5798C>T	XP_005255181.1:p.Pro1933Leu
XM_005255125.3:c.5426C>T	XP_005255182.1:p.Pro1809Leu
XM_006720848.2:c.5582C>T	XP_006720911.1:p.Pro1861Leu
XM_011522380.1:c.5789C>T	XP_011520682.1:p.Pro1930Leu
XM_011522381.1:c.5090C>T	XP_011520683.1:p.Pro1697Leu
XM_005255124.4:c.5798C>T	XP_005255181.1:p.Pro1933Leu
XM_005255125.4:c.5426C>T	XP_005255182.1:p.Pro1809Leu
XM_006720848.3:c.5582C>T	XP_006720911.1:p.Pro1861Leu
XM_011522381.2:c.5090C>T	XP_011520683.1:p.Pro1697Leu
XM_017022944.1:c.5837C>T	XP_016878433.1:p.Pro1946Leu
NM_004380.3:c.5843C>T MANE Select	NP_004371.2:p.Pro1948Leu