Canonical Allele Identifier: CA394554053

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728895-G-A
• MyVariant Identifiers: chr16:g.3778896G>A (hg19) ; chr16:g.3728895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728895G>A , CM000678.2:g.3728895G>A	GRCh38
NC_000016.9:g.3778896G>A , CM000678.1:g.3778896G>A	GRCh37
NC_000016.8:g.3718897G>A	NCBI36
NG_009873.1:g.156226C>T
NG_009873.2:g.156819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6152C>T MANE Select	ENSP00000262367.5:p.Pro2051Leu
ENST00000262367.9:c.6152C>T	ENSP00000262367.5:p.Pro2051Leu
ENST00000382070.7:c.6038C>T	ENSP00000371502.3:p.Pro2013Leu
NM_001079846.1:c.6038C>T	NP_001073315.1:p.Pro2013Leu
NM_004380.2:c.6152C>T	NP_004371.2:p.Pro2051Leu
XM_005255124.3:c.6107C>T	XP_005255181.1:p.Pro2036Leu
XM_005255125.3:c.5735C>T	XP_005255182.1:p.Pro1912Leu
XM_006720848.2:c.5891C>T	XP_006720911.1:p.Pro1964Leu
XM_011522380.1:c.6098C>T	XP_011520682.1:p.Pro2033Leu
XM_011522381.1:c.5399C>T	XP_011520683.1:p.Pro1800Leu
XM_005255124.4:c.6107C>T	XP_005255181.1:p.Pro2036Leu
XM_005255125.4:c.5735C>T	XP_005255182.1:p.Pro1912Leu
XM_006720848.3:c.5891C>T	XP_006720911.1:p.Pro1964Leu
XM_011522381.2:c.5399C>T	XP_011520683.1:p.Pro1800Leu
XM_017022944.1:c.6146C>T	XP_016878433.1:p.Pro2049Leu
NM_004380.3:c.6152C>T MANE Select	NP_004371.2:p.Pro2051Leu