Canonical Allele Identifier: CA394555981

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151309789
• MyVariant Identifiers: chr16:g.3779472A>G (hg19) ; chr16:g.3729471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729471A>G , CM000678.2:g.3729471A>G	GRCh38
NC_000016.9:g.3779472A>G , CM000678.1:g.3779472A>G	GRCh37
NC_000016.8:g.3719473A>G	NCBI36
NG_009873.1:g.155650T>C
NG_009873.2:g.156243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5576T>C MANE Select	ENSP00000262367.5:p.Leu1859Pro
ENST00000262367.9:c.5576T>C	ENSP00000262367.5:p.Leu1859Pro
ENST00000382070.7:c.5462T>C	ENSP00000371502.3:p.Leu1821Pro
NM_001079846.1:c.5462T>C	NP_001073315.1:p.Leu1821Pro
NM_004380.2:c.5576T>C	NP_004371.2:p.Leu1859Pro
XM_005255124.3:c.5531T>C	XP_005255181.1:p.Leu1844Pro
XM_005255125.3:c.5159T>C	XP_005255182.1:p.Leu1720Pro
XM_006720848.2:c.5315T>C	XP_006720911.1:p.Leu1772Pro
XM_011522380.1:c.5522T>C	XP_011520682.1:p.Leu1841Pro
XM_011522381.1:c.4823T>C	XP_011520683.1:p.Leu1608Pro
XM_005255124.4:c.5531T>C	XP_005255181.1:p.Leu1844Pro
XM_005255125.4:c.5159T>C	XP_005255182.1:p.Leu1720Pro
XM_006720848.3:c.5315T>C	XP_006720911.1:p.Leu1772Pro
XM_011522381.2:c.4823T>C	XP_011520683.1:p.Leu1608Pro
XM_017022944.1:c.5570T>C	XP_016878433.1:p.Leu1857Pro
NM_004380.3:c.5576T>C MANE Select	NP_004371.2:p.Leu1859Pro