Canonical Allele Identifier: CA394554022

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051828003
• MyVariant Identifiers: chr16:g.3778888G>C (hg19) ; chr16:g.3728887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728887G>C , CM000678.2:g.3728887G>C	GRCh38
NC_000016.9:g.3778888G>C , CM000678.1:g.3778888G>C	GRCh37
NC_000016.8:g.3718889G>C	NCBI36
NG_009873.1:g.156234C>G
NG_009873.2:g.156827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6160C>G MANE Select	ENSP00000262367.5:p.Pro2054Ala
ENST00000262367.9:c.6160C>G	ENSP00000262367.5:p.Pro2054Ala
ENST00000382070.7:c.6046C>G	ENSP00000371502.3:p.Pro2016Ala
NM_001079846.1:c.6046C>G	NP_001073315.1:p.Pro2016Ala
NM_004380.2:c.6160C>G	NP_004371.2:p.Pro2054Ala
XM_005255124.3:c.6115C>G	XP_005255181.1:p.Pro2039Ala
XM_005255125.3:c.5743C>G	XP_005255182.1:p.Pro1915Ala
XM_006720848.2:c.5899C>G	XP_006720911.1:p.Pro1967Ala
XM_011522380.1:c.6106C>G	XP_011520682.1:p.Pro2036Ala
XM_011522381.1:c.5407C>G	XP_011520683.1:p.Pro1803Ala
XM_005255124.4:c.6115C>G	XP_005255181.1:p.Pro2039Ala
XM_005255125.4:c.5743C>G	XP_005255182.1:p.Pro1915Ala
XM_006720848.3:c.5899C>G	XP_006720911.1:p.Pro1967Ala
XM_011522381.2:c.5407C>G	XP_011520683.1:p.Pro1803Ala
XM_017022944.1:c.6154C>G	XP_016878433.1:p.Pro2052Ala
NM_004380.3:c.6160C>G MANE Select	NP_004371.2:p.Pro2054Ala