Canonical Allele Identifier: CA394550423

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298938
• MyVariant Identifiers: chr16:g.3777895G>C (hg19) ; chr16:g.3727894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727894G>C , CM000678.2:g.3727894G>C	GRCh38
NC_000016.9:g.3777895G>C , CM000678.1:g.3777895G>C	GRCh37
NC_000016.8:g.3717896G>C	NCBI36
NG_009873.1:g.157227C>G
NG_009873.2:g.157820C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7153C>G MANE Select	ENSP00000262367.5:p.Pro2385Ala
ENST00000262367.9:c.7153C>G	ENSP00000262367.5:p.Pro2385Ala
ENST00000382070.7:c.7039C>G	ENSP00000371502.3:p.Pro2347Ala
NM_001079846.1:c.7039C>G	NP_001073315.1:p.Pro2347Ala
NM_004380.2:c.7153C>G	NP_004371.2:p.Pro2385Ala
XM_005255124.3:c.7108C>G	XP_005255181.1:p.Pro2370Ala
XM_005255125.3:c.6736C>G	XP_005255182.1:p.Pro2246Ala
XM_006720848.2:c.6892C>G	XP_006720911.1:p.Pro2298Ala
XM_011522380.1:c.7099C>G	XP_011520682.1:p.Pro2367Ala
XM_011522381.1:c.6400C>G	XP_011520683.1:p.Pro2134Ala
XM_005255124.4:c.7108C>G	XP_005255181.1:p.Pro2370Ala
XM_005255125.4:c.6736C>G	XP_005255182.1:p.Pro2246Ala
XM_006720848.3:c.6892C>G	XP_006720911.1:p.Pro2298Ala
XM_011522381.2:c.6400C>G	XP_011520683.1:p.Pro2134Ala
XM_017022944.1:c.7147C>G	XP_016878433.1:p.Pro2383Ala
NM_004380.3:c.7153C>G MANE Select	NP_004371.2:p.Pro2385Ala