Canonical Allele Identifier: CA394564002

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786793G>C (hg19) ; chr16:g.3736792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736792G>C , CM000678.2:g.3736792G>C	GRCh38
NC_000016.9:g.3786793G>C , CM000678.1:g.3786793G>C	GRCh37
NC_000016.8:g.3726794G>C	NCBI36
NG_009873.1:g.148329C>G
NG_009873.2:g.148922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4418C>G MANE Select	ENSP00000262367.5:p.Ala1473Gly
ENST00000262367.9:c.4418C>G	ENSP00000262367.5:p.Ala1473Gly
ENST00000382070.7:c.4304C>G	ENSP00000371502.3:p.Ala1435Gly
ENST00000570939.2:c.3053C>G	ENSP00000461002.2:p.Ala1018Gly
ENST00000571763.5:n.208C>G
ENST00000574740.1:n.239C>G
ENST00000576720.1:n.3241C>G
NM_001079846.1:c.4304C>G	NP_001073315.1:p.Ala1435Gly
NM_004380.2:c.4418C>G	NP_004371.2:p.Ala1473Gly
XM_005255124.3:c.4373C>G	XP_005255181.1:p.Ala1458Gly
XM_005255125.3:c.4001C>G	XP_005255182.1:p.Ala1334Gly
XM_006720848.2:c.4157C>G	XP_006720911.1:p.Ala1386Gly
XM_011522380.1:c.4364C>G	XP_011520682.1:p.Ala1455Gly
XM_011522381.1:c.3665C>G	XP_011520683.1:p.Ala1222Gly
XM_005255124.4:c.4373C>G	XP_005255181.1:p.Ala1458Gly
XM_005255125.4:c.4001C>G	XP_005255182.1:p.Ala1334Gly
XM_006720848.3:c.4157C>G	XP_006720911.1:p.Ala1386Gly
XM_011522381.2:c.3665C>G	XP_011520683.1:p.Ala1222Gly
XM_017022944.1:c.4412C>G	XP_016878433.1:p.Ala1471Gly
NM_004380.3:c.4418C>G MANE Select	NP_004371.2:p.Ala1473Gly