Canonical Allele Identifier: CA394554088

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728905-C-A
• MyVariant Identifiers: chr16:g.3778906C>A (hg19) ; chr16:g.3728905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728905C>A , CM000678.2:g.3728905C>A	GRCh38
NC_000016.9:g.3778906C>A , CM000678.1:g.3778906C>A	GRCh37
NC_000016.8:g.3718907C>A	NCBI36
NG_009873.1:g.156216G>T
NG_009873.2:g.156809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6142G>T MANE Select	ENSP00000262367.5:p.Val2048Leu
ENST00000262367.9:c.6142G>T	ENSP00000262367.5:p.Val2048Leu
ENST00000382070.7:c.6028G>T	ENSP00000371502.3:p.Val2010Leu
NM_001079846.1:c.6028G>T	NP_001073315.1:p.Val2010Leu
NM_004380.2:c.6142G>T	NP_004371.2:p.Val2048Leu
XM_005255124.3:c.6097G>T	XP_005255181.1:p.Val2033Leu
XM_005255125.3:c.5725G>T	XP_005255182.1:p.Val1909Leu
XM_006720848.2:c.5881G>T	XP_006720911.1:p.Val1961Leu
XM_011522380.1:c.6088G>T	XP_011520682.1:p.Val2030Leu
XM_011522381.1:c.5389G>T	XP_011520683.1:p.Val1797Leu
XM_005255124.4:c.6097G>T	XP_005255181.1:p.Val2033Leu
XM_005255125.4:c.5725G>T	XP_005255182.1:p.Val1909Leu
XM_006720848.3:c.5881G>T	XP_006720911.1:p.Val1961Leu
XM_011522381.2:c.5389G>T	XP_011520683.1:p.Val1797Leu
XM_017022944.1:c.6136G>T	XP_016878433.1:p.Val2046Leu
NM_004380.3:c.6142G>T MANE Select	NP_004371.2:p.Val2048Leu