Canonical Allele Identifier: CA394556070

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310083
• MyVariant Identifiers: chr16:g.3779511A>G (hg19) ; chr16:g.3729510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729510A>G , CM000678.2:g.3729510A>G	GRCh38
NC_000016.9:g.3779511A>G , CM000678.1:g.3779511A>G	GRCh37
NC_000016.8:g.3719512A>G	NCBI36
NG_009873.1:g.155611T>C
NG_009873.2:g.156204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5537T>C MANE Select	ENSP00000262367.5:p.Ile1846Thr
ENST00000262367.9:c.5537T>C	ENSP00000262367.5:p.Ile1846Thr
ENST00000382070.7:c.5423T>C	ENSP00000371502.3:p.Ile1808Thr
NM_001079846.1:c.5423T>C	NP_001073315.1:p.Ile1808Thr
NM_004380.2:c.5537T>C	NP_004371.2:p.Ile1846Thr
XM_005255124.3:c.5492T>C	XP_005255181.1:p.Ile1831Thr
XM_005255125.3:c.5120T>C	XP_005255182.1:p.Ile1707Thr
XM_006720848.2:c.5276T>C	XP_006720911.1:p.Ile1759Thr
XM_011522380.1:c.5483T>C	XP_011520682.1:p.Ile1828Thr
XM_011522381.1:c.4784T>C	XP_011520683.1:p.Ile1595Thr
XM_005255124.4:c.5492T>C	XP_005255181.1:p.Ile1831Thr
XM_005255125.4:c.5120T>C	XP_005255182.1:p.Ile1707Thr
XM_006720848.3:c.5276T>C	XP_006720911.1:p.Ile1759Thr
XM_011522381.2:c.4784T>C	XP_011520683.1:p.Ile1595Thr
XM_017022944.1:c.5531T>C	XP_016878433.1:p.Ile1844Thr
NM_004380.3:c.5537T>C MANE Select	NP_004371.2:p.Ile1846Thr