Canonical Allele Identifier: CA276982532

Gene: CREBBP

Linked Data

• dbSNP Id: rs1032505371
• gnomAD v2: 16-3789682-T-C
• gnomAD v3: 16-3739681-T-C
• gnomAD v4: 16-3739681-T-C
• MyVariant Identifiers: chr16:g.3789682T>C (hg19) ; chr16:g.3739681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739681T>C , CM000678.2:g.3739681T>C	GRCh38
NC_000016.9:g.3789682T>C , CM000678.1:g.3789682T>C	GRCh37
NC_000016.8:g.3729683T>C	NCBI36
NG_009873.1:g.145440A>G
NG_009873.2:g.146033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4177A>G MANE Select	ENSP00000262367.5:p.Thr1393Ala
ENST00000262367.9:c.4177A>G	ENSP00000262367.5:p.Thr1393Ala
ENST00000382070.7:c.4063A>G	ENSP00000371502.3:p.Thr1355Ala
ENST00000570939.2:c.2812A>G	ENSP00000461002.2:p.Thr938Ala
ENST00000573517.6:c.483A>G
ENST00000574740.1:n.215+718A>G
ENST00000576720.1:n.3114A>G
NM_001079846.1:c.4063A>G	NP_001073315.1:p.Thr1355Ala
NM_004380.2:c.4177A>G	NP_004371.2:p.Thr1393Ala
XM_005255124.3:c.4132A>G	XP_005255181.1:p.Thr1378Ala
XM_005255125.3:c.3760A>G	XP_005255182.1:p.Thr1254Ala
XM_006720848.2:c.4133+718A>G	XP_006720911.1:n.4133+718A>G
XM_011522380.1:c.4123A>G	XP_011520682.1:p.Thr1375Ala
XM_011522381.1:c.3424A>G	XP_011520683.1:p.Thr1142Ala
XM_005255124.4:c.4132A>G	XP_005255181.1:p.Thr1378Ala
XM_005255125.4:c.3760A>G	XP_005255182.1:p.Thr1254Ala
XM_006720848.3:c.4133+718A>G	XP_006720911.1:n.4133+718A>G
XM_011522381.2:c.3424A>G	XP_011520683.1:p.Thr1142Ala
XM_017022944.1:c.4171A>G	XP_016878433.1:p.Thr1391Ala
NM_004380.3:c.4177A>G MANE Select	NP_004371.2:p.Thr1393Ala