Canonical Allele Identifier: CA394560579

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053518270
• gnomAD v3: 16-3792012-C-G
• gnomAD v4: 16-3792012-C-G
• MyVariant Identifiers: chr16:g.3842013C>G (hg19) ; chr16:g.3792012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792012C>G , CM000678.2:g.3792012C>G	GRCh38
NC_000016.9:g.3842013C>G , CM000678.1:g.3842013C>G	GRCh37
NC_000016.8:g.3782014C>G	NCBI36
NG_009873.1:g.93109G>C
NG_009873.2:g.93702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1299G>C MANE Select	ENSP00000262367.5:p.Leu433Phe
ENST00000262367.9:c.1299G>C	ENSP00000262367.5:p.Leu433Phe
ENST00000382070.7:c.1216+1374G>C	ENSP00000371502.3:n.1216+1374G>C
NM_001079846.1:c.1216+1374G>C	NP_001073315.1:n.1216+1374G>C
NM_004380.2:c.1299G>C	NP_004371.2:p.Leu433Phe
XM_005255124.3:c.1299G>C	XP_005255181.1:p.Leu433Phe
XM_005255125.3:c.1299G>C	XP_005255182.1:p.Leu433Phe
XM_006720848.2:c.1299G>C	XP_006720911.1:p.Leu433Phe
XM_011522380.1:c.1245G>C	XP_011520682.1:p.Leu415Phe
XM_011522381.1:c.546G>C	XP_011520683.1:p.Leu182Phe
XM_011522382.1:c.1299G>C	XP_011520684.1:p.Leu433Phe
XM_005255124.4:c.1299G>C	XP_005255181.1:p.Leu433Phe
XM_005255125.4:c.1299G>C	XP_005255182.1:p.Leu433Phe
XM_006720848.3:c.1299G>C	XP_006720911.1:p.Leu433Phe
XM_011522381.2:c.546G>C	XP_011520683.1:p.Leu182Phe
XM_011522382.3:c.1299G>C	XP_011520684.1:p.Leu433Phe
XM_017022944.1:c.1299G>C	XP_016878433.1:p.Leu433Phe
NM_004380.3:c.1299G>C MANE Select	NP_004371.2:p.Leu433Phe