Canonical Allele Identifier: CA394550082

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727732-C-A
• MyVariant Identifiers: chr16:g.3777733C>A (hg19) ; chr16:g.3727732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727732C>A , CM000678.2:g.3727732C>A	GRCh38
NC_000016.9:g.3777733C>A , CM000678.1:g.3777733C>A	GRCh37
NC_000016.8:g.3717734C>A	NCBI36
NG_009873.1:g.157389G>T
NG_009873.2:g.157982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7315G>T MANE Select	ENSP00000262367.5:p.Val2439Leu
ENST00000262367.9:c.7315G>T	ENSP00000262367.5:p.Val2439Leu
ENST00000382070.7:c.7201G>T	ENSP00000371502.3:p.Val2401Leu
NM_001079846.1:c.7201G>T	NP_001073315.1:p.Val2401Leu
NM_004380.2:c.7315G>T	NP_004371.2:p.Val2439Leu
XM_005255124.3:c.7270G>T	XP_005255181.1:p.Val2424Leu
XM_005255125.3:c.6898G>T	XP_005255182.1:p.Val2300Leu
XM_006720848.2:c.7054G>T	XP_006720911.1:p.Val2352Leu
XM_011522380.1:c.7261G>T	XP_011520682.1:p.Val2421Leu
XM_011522381.1:c.6562G>T	XP_011520683.1:p.Val2188Leu
XM_005255124.4:c.7270G>T	XP_005255181.1:p.Val2424Leu
XM_005255125.4:c.6898G>T	XP_005255182.1:p.Val2300Leu
XM_006720848.3:c.7054G>T	XP_006720911.1:p.Val2352Leu
XM_011522381.2:c.6562G>T	XP_011520683.1:p.Val2188Leu
XM_017022944.1:c.7309G>T	XP_016878433.1:p.Val2437Leu
NM_004380.3:c.7315G>T MANE Select	NP_004371.2:p.Val2439Leu