Canonical Allele Identifier: CA394554328

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728970-A-G
• MyVariant Identifiers: chr16:g.3778971A>G (hg19) ; chr16:g.3728970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728970A>G , CM000678.2:g.3728970A>G	GRCh38
NC_000016.9:g.3778971A>G , CM000678.1:g.3778971A>G	GRCh37
NC_000016.8:g.3718972A>G	NCBI36
NG_009873.1:g.156151T>C
NG_009873.2:g.156744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6077T>C MANE Select	ENSP00000262367.5:p.Leu2026Pro
ENST00000262367.9:c.6077T>C	ENSP00000262367.5:p.Leu2026Pro
ENST00000382070.7:c.5963T>C	ENSP00000371502.3:p.Leu1988Pro
NM_001079846.1:c.5963T>C	NP_001073315.1:p.Leu1988Pro
NM_004380.2:c.6077T>C	NP_004371.2:p.Leu2026Pro
XM_005255124.3:c.6032T>C	XP_005255181.1:p.Leu2011Pro
XM_005255125.3:c.5660T>C	XP_005255182.1:p.Leu1887Pro
XM_006720848.2:c.5816T>C	XP_006720911.1:p.Leu1939Pro
XM_011522380.1:c.6023T>C	XP_011520682.1:p.Leu2008Pro
XM_011522381.1:c.5324T>C	XP_011520683.1:p.Leu1775Pro
XM_005255124.4:c.6032T>C	XP_005255181.1:p.Leu2011Pro
XM_005255125.4:c.5660T>C	XP_005255182.1:p.Leu1887Pro
XM_006720848.3:c.5816T>C	XP_006720911.1:p.Leu1939Pro
XM_011522381.2:c.5324T>C	XP_011520683.1:p.Leu1775Pro
XM_017022944.1:c.6071T>C	XP_016878433.1:p.Leu2024Pro
NM_004380.3:c.6077T>C MANE Select	NP_004371.2:p.Leu2026Pro