Canonical Allele Identifier: CA394566498

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3744904-G-C
• MyVariant Identifiers: chr16:g.3794905G>C (hg19) ; chr16:g.3744904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744904G>C , CM000678.2:g.3744904G>C	GRCh38
NC_000016.9:g.3794905G>C , CM000678.1:g.3794905G>C	GRCh37
NC_000016.8:g.3734906G>C	NCBI36
NG_009873.1:g.140217C>G
NG_009873.2:g.140810C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3972C>G MANE Select	ENSP00000262367.5:p.Phe1324Leu
ENST00000635919.1:n.20C>G
ENST00000262367.9:c.3972C>G	ENSP00000262367.5:p.Phe1324Leu
ENST00000382070.7:c.3858C>G	ENSP00000371502.3:p.Phe1286Leu
ENST00000570939.2:c.2607C>G	ENSP00000461002.2:p.Phe869Leu
ENST00000572569.1:n.436C>G
ENST00000573517.6:c.278C>G
ENST00000574740.1:n.54C>G
NM_001079846.1:c.3858C>G	NP_001073315.1:p.Phe1286Leu
NM_004380.2:c.3972C>G	NP_004371.2:p.Phe1324Leu
XM_005255124.3:c.3927C>G	XP_005255181.1:p.Phe1309Leu
XM_005255125.3:c.3555C>G	XP_005255182.1:p.Phe1185Leu
XM_006720848.2:c.3972C>G	XP_006720911.1:p.Phe1324Leu
XM_011522380.1:c.3918C>G	XP_011520682.1:p.Phe1306Leu
XM_011522381.1:c.3219C>G	XP_011520683.1:p.Phe1073Leu
XM_005255124.4:c.3927C>G	XP_005255181.1:p.Phe1309Leu
XM_005255125.4:c.3555C>G	XP_005255182.1:p.Phe1185Leu
XM_006720848.3:c.3972C>G	XP_006720911.1:p.Phe1324Leu
XM_011522381.2:c.3219C>G	XP_011520683.1:p.Phe1073Leu
XM_017022944.1:c.3966C>G	XP_016878433.1:p.Phe1322Leu
NM_004380.3:c.3972C>G MANE Select	NP_004371.2:p.Phe1324Leu