Canonical Allele Identifier: CA276972022

Gene: CREBBP

Linked Data

• dbSNP Id: rs1024044771
• gnomAD v2: 16-3779251-C-G
• gnomAD v3: 16-3729250-C-G
• gnomAD v4: 16-3729250-C-G
• MyVariant Identifiers: chr16:g.3779251C>G (hg19) ; chr16:g.3729250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729250C>G , CM000678.2:g.3729250C>G	GRCh38
NC_000016.9:g.3779251C>G , CM000678.1:g.3779251C>G	GRCh37
NC_000016.8:g.3719252C>G	NCBI36
NG_009873.1:g.155871G>C
NG_009873.2:g.156464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5797G>C MANE Select	ENSP00000262367.5:p.Val1933Leu
ENST00000262367.9:c.5797G>C	ENSP00000262367.5:p.Val1933Leu
ENST00000382070.7:c.5683G>C	ENSP00000371502.3:p.Val1895Leu
NM_001079846.1:c.5683G>C	NP_001073315.1:p.Val1895Leu
NM_004380.2:c.5797G>C	NP_004371.2:p.Val1933Leu
XM_005255124.3:c.5752G>C	XP_005255181.1:p.Val1918Leu
XM_005255125.3:c.5380G>C	XP_005255182.1:p.Val1794Leu
XM_006720848.2:c.5536G>C	XP_006720911.1:p.Val1846Leu
XM_011522380.1:c.5743G>C	XP_011520682.1:p.Val1915Leu
XM_011522381.1:c.5044G>C	XP_011520683.1:p.Val1682Leu
XM_005255124.4:c.5752G>C	XP_005255181.1:p.Val1918Leu
XM_005255125.4:c.5380G>C	XP_005255182.1:p.Val1794Leu
XM_006720848.3:c.5536G>C	XP_006720911.1:p.Val1846Leu
XM_011522381.2:c.5044G>C	XP_011520683.1:p.Val1682Leu
XM_017022944.1:c.5791G>C	XP_016878433.1:p.Val1931Leu
NM_004380.3:c.5797G>C MANE Select	NP_004371.2:p.Val1933Leu