Canonical Allele Identifier: CA394556559

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311117
• MyVariant Identifiers: chr16:g.3779647C>G (hg19) ; chr16:g.3729646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729646C>G , CM000678.2:g.3729646C>G	GRCh38
NC_000016.9:g.3779647C>G , CM000678.1:g.3779647C>G	GRCh37
NC_000016.8:g.3719648C>G	NCBI36
NG_009873.1:g.155475G>C
NG_009873.2:g.156068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5401G>C MANE Select	ENSP00000262367.5:p.Val1801Leu
ENST00000262367.9:c.5401G>C	ENSP00000262367.5:p.Val1801Leu
ENST00000382070.7:c.5287G>C	ENSP00000371502.3:p.Val1763Leu
NM_001079846.1:c.5287G>C	NP_001073315.1:p.Val1763Leu
NM_004380.2:c.5401G>C	NP_004371.2:p.Val1801Leu
XM_005255124.3:c.5356G>C	XP_005255181.1:p.Val1786Leu
XM_005255125.3:c.4984G>C	XP_005255182.1:p.Val1662Leu
XM_006720848.2:c.5140G>C	XP_006720911.1:p.Val1714Leu
XM_011522380.1:c.5347G>C	XP_011520682.1:p.Val1783Leu
XM_011522381.1:c.4648G>C	XP_011520683.1:p.Val1550Leu
XM_005255124.4:c.5356G>C	XP_005255181.1:p.Val1786Leu
XM_005255125.4:c.4984G>C	XP_005255182.1:p.Val1662Leu
XM_006720848.3:c.5140G>C	XP_006720911.1:p.Val1714Leu
XM_011522381.2:c.4648G>C	XP_011520683.1:p.Val1550Leu
XM_017022944.1:c.5395G>C	XP_016878433.1:p.Val1799Leu
NM_004380.3:c.5401G>C MANE Select	NP_004371.2:p.Val1801Leu