Canonical Allele Identifier: CA394553997

Gene: CREBBP

Linked Data

• dbSNP Id: rs1254881895
• gnomAD v2: 16-3778882-C-G
• gnomAD v4: 16-3728881-C-G
• MyVariant Identifiers: chr16:g.3778882C>G (hg19) ; chr16:g.3728881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728881C>G , CM000678.2:g.3728881C>G	GRCh38
NC_000016.9:g.3778882C>G , CM000678.1:g.3778882C>G	GRCh37
NC_000016.8:g.3718883C>G	NCBI36
NG_009873.1:g.156240G>C
NG_009873.2:g.156833G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6166G>C MANE Select	ENSP00000262367.5:p.Val2056Leu
ENST00000262367.9:c.6166G>C	ENSP00000262367.5:p.Val2056Leu
ENST00000382070.7:c.6052G>C	ENSP00000371502.3:p.Val2018Leu
NM_001079846.1:c.6052G>C	NP_001073315.1:p.Val2018Leu
NM_004380.2:c.6166G>C	NP_004371.2:p.Val2056Leu
XM_005255124.3:c.6121G>C	XP_005255181.1:p.Val2041Leu
XM_005255125.3:c.5749G>C	XP_005255182.1:p.Val1917Leu
XM_006720848.2:c.5905G>C	XP_006720911.1:p.Val1969Leu
XM_011522380.1:c.6112G>C	XP_011520682.1:p.Val2038Leu
XM_011522381.1:c.5413G>C	XP_011520683.1:p.Val1805Leu
XM_005255124.4:c.6121G>C	XP_005255181.1:p.Val2041Leu
XM_005255125.4:c.5749G>C	XP_005255182.1:p.Val1917Leu
XM_006720848.3:c.5905G>C	XP_006720911.1:p.Val1969Leu
XM_011522381.2:c.5413G>C	XP_011520683.1:p.Val1805Leu
XM_017022944.1:c.6160G>C	XP_016878433.1:p.Val2054Leu
NM_004380.3:c.6166G>C MANE Select	NP_004371.2:p.Val2056Leu