Canonical Allele Identifier: CA394553851

Gene: CREBBP

Linked Data

• dbSNP Id: rs1193973836
• MyVariant Identifiers: chr16:g.3778819G>C (hg19) ; chr16:g.3728818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728818G>C , CM000678.2:g.3728818G>C	GRCh38
NC_000016.9:g.3778819G>C , CM000678.1:g.3778819G>C	GRCh37
NC_000016.8:g.3718820G>C	NCBI36
NG_009873.1:g.156303C>G
NG_009873.2:g.156896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6229C>G MANE Select	ENSP00000262367.5:p.Pro2077Ala
ENST00000262367.9:c.6229C>G	ENSP00000262367.5:p.Pro2077Ala
ENST00000382070.7:c.6115C>G	ENSP00000371502.3:p.Pro2039Ala
NM_001079846.1:c.6115C>G	NP_001073315.1:p.Pro2039Ala
NM_004380.2:c.6229C>G	NP_004371.2:p.Pro2077Ala
XM_005255124.3:c.6184C>G	XP_005255181.1:p.Pro2062Ala
XM_005255125.3:c.5812C>G	XP_005255182.1:p.Pro1938Ala
XM_006720848.2:c.5968C>G	XP_006720911.1:p.Pro1990Ala
XM_011522380.1:c.6175C>G	XP_011520682.1:p.Pro2059Ala
XM_011522381.1:c.5476C>G	XP_011520683.1:p.Pro1826Ala
XM_005255124.4:c.6184C>G	XP_005255181.1:p.Pro2062Ala
XM_005255125.4:c.5812C>G	XP_005255182.1:p.Pro1938Ala
XM_006720848.3:c.5968C>G	XP_006720911.1:p.Pro1990Ala
XM_011522381.2:c.5476C>G	XP_011520683.1:p.Pro1826Ala
XM_017022944.1:c.6223C>G	XP_016878433.1:p.Pro2075Ala
NM_004380.3:c.6229C>G MANE Select	NP_004371.2:p.Pro2077Ala