Canonical Allele Identifier: CA394563372

Gene: CREBBP

Linked Data

• dbSNP Id: rs1471683943
• gnomAD v2: 16-3786671-G-C
• gnomAD v4: 16-3736670-G-C
• MyVariant Identifiers: chr16:g.3786671G>C (hg19) ; chr16:g.3736670G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736670G>C , CM000678.2:g.3736670G>C	GRCh38
NC_000016.9:g.3786671G>C , CM000678.1:g.3786671G>C	GRCh37
NC_000016.8:g.3726672G>C	NCBI36
NG_009873.1:g.148451C>G
NG_009873.2:g.149044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4540C>G MANE Select	ENSP00000262367.5:p.Arg1514Gly
ENST00000262367.9:c.4540C>G	ENSP00000262367.5:p.Arg1514Gly
ENST00000382070.7:c.4426C>G	ENSP00000371502.3:p.Arg1476Gly
ENST00000570939.2:c.3175C>G	ENSP00000461002.2:p.Arg1059Gly
ENST00000571763.5:n.330C>G
ENST00000574740.1:n.361C>G
ENST00000576720.1:n.3363C>G
NM_001079846.1:c.4426C>G	NP_001073315.1:p.Arg1476Gly
NM_004380.2:c.4540C>G	NP_004371.2:p.Arg1514Gly
XM_005255124.3:c.4495C>G	XP_005255181.1:p.Arg1499Gly
XM_005255125.3:c.4123C>G	XP_005255182.1:p.Arg1375Gly
XM_006720848.2:c.4279C>G	XP_006720911.1:p.Arg1427Gly
XM_011522380.1:c.4486C>G	XP_011520682.1:p.Arg1496Gly
XM_011522381.1:c.3787C>G	XP_011520683.1:p.Arg1263Gly
XM_005255124.4:c.4495C>G	XP_005255181.1:p.Arg1499Gly
XM_005255125.4:c.4123C>G	XP_005255182.1:p.Arg1375Gly
XM_006720848.3:c.4279C>G	XP_006720911.1:p.Arg1427Gly
XM_011522381.2:c.3787C>G	XP_011520683.1:p.Arg1263Gly
XM_017022944.1:c.4534C>G	XP_016878433.1:p.Arg1512Gly
NM_004380.3:c.4540C>G MANE Select	NP_004371.2:p.Arg1514Gly