Canonical Allele Identifier: CA394551248

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051797109
• MyVariant Identifiers: chr16:g.3778133A>C (hg19) ; chr16:g.3728132A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728132A>C , CM000678.2:g.3728132A>C	GRCh38
NC_000016.9:g.3778133A>C , CM000678.1:g.3778133A>C	GRCh37
NC_000016.8:g.3718134A>C	NCBI36
NG_009873.1:g.156989T>G
NG_009873.2:g.157582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6915T>G MANE Select	ENSP00000262367.5:p.Ile2305Met
ENST00000262367.9:c.6915T>G	ENSP00000262367.5:p.Ile2305Met
ENST00000382070.7:c.6801T>G	ENSP00000371502.3:p.Ile2267Met
NM_001079846.1:c.6801T>G	NP_001073315.1:p.Ile2267Met
NM_004380.2:c.6915T>G	NP_004371.2:p.Ile2305Met
XM_005255124.3:c.6870T>G	XP_005255181.1:p.Ile2290Met
XM_005255125.3:c.6498T>G	XP_005255182.1:p.Ile2166Met
XM_006720848.2:c.6654T>G	XP_006720911.1:p.Ile2218Met
XM_011522380.1:c.6861T>G	XP_011520682.1:p.Ile2287Met
XM_011522381.1:c.6162T>G	XP_011520683.1:p.Ile2054Met
XM_005255124.4:c.6870T>G	XP_005255181.1:p.Ile2290Met
XM_005255125.4:c.6498T>G	XP_005255182.1:p.Ile2166Met
XM_006720848.3:c.6654T>G	XP_006720911.1:p.Ile2218Met
XM_011522381.2:c.6162T>G	XP_011520683.1:p.Ile2054Met
XM_017022944.1:c.6909T>G	XP_016878433.1:p.Ile2303Met
NM_004380.3:c.6915T>G MANE Select	NP_004371.2:p.Ile2305Met