Canonical Allele Identifier: CA394554025

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777622-C-G
• MyVariant Identifiers: chr16:g.3827623C>G (hg19) ; chr16:g.3777622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777622C>G , CM000678.2:g.3777622C>G	GRCh38
NC_000016.9:g.3827623C>G , CM000678.1:g.3827623C>G	GRCh37
NC_000016.8:g.3767624C>G	NCBI36
NG_009873.1:g.107499G>C
NG_009873.2:g.108092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2149G>C MANE Select	ENSP00000262367.5:p.Val717Leu
ENST00000262367.9:c.2149G>C	ENSP00000262367.5:p.Val717Leu
ENST00000382070.7:c.2035G>C	ENSP00000371502.3:p.Val679Leu
ENST00000570939.2:c.754G>C	ENSP00000461002.2:p.Val252Leu
ENST00000571826.5:c.198G>C
ENST00000572134.1:c.426+389G>C
NM_001079846.1:c.2035G>C	NP_001073315.1:p.Val679Leu
NM_004380.2:c.2149G>C	NP_004371.2:p.Val717Leu
XM_005255124.3:c.2113+389G>C	XP_005255181.1:n.2113+389G>C
XM_005255125.3:c.2149G>C	XP_005255182.1:p.Val717Leu
XM_006720848.2:c.2149G>C	XP_006720911.1:p.Val717Leu
XM_011522380.1:c.2095G>C	XP_011520682.1:p.Val699Leu
XM_011522381.1:c.1396G>C	XP_011520683.1:p.Val466Leu
XM_011522382.1:c.2149G>C	XP_011520684.1:p.Val717Leu
XM_005255124.4:c.2113+389G>C	XP_005255181.1:n.2113+389G>C
XM_005255125.4:c.2149G>C	XP_005255182.1:p.Val717Leu
XM_006720848.3:c.2149G>C	XP_006720911.1:p.Val717Leu
XM_011522381.2:c.1396G>C	XP_011520683.1:p.Val466Leu
XM_011522382.3:c.2149G>C	XP_011520684.1:p.Val717Leu
XM_017022944.1:c.2149G>C	XP_016878433.1:p.Val717Leu
NM_004380.3:c.2149G>C MANE Select	NP_004371.2:p.Val717Leu