Canonical Allele Identifier: CA394564909

Gene: CREBBP

Linked Data

• dbSNP Id: rs1032505371
• MyVariant Identifiers: chr16:g.3789682T>A (hg19) ; chr16:g.3739681T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4177A>T MANE Select	ENSP00000262367.5:p.Thr1393Ser
ENST00000262367.9:c.4177A>T	ENSP00000262367.5:p.Thr1393Ser
ENST00000382070.7:c.4063A>T	ENSP00000371502.3:p.Thr1355Ser
ENST00000570939.2:c.2812A>T	ENSP00000461002.2:p.Thr938Ser
ENST00000573517.6:c.483A>T
ENST00000574740.1:n.215+718A>T
ENST00000576720.1:n.3114A>T
NM_001079846.1:c.4063A>T	NP_001073315.1:p.Thr1355Ser
NM_004380.2:c.4177A>T	NP_004371.2:p.Thr1393Ser
XM_005255124.3:c.4132A>T	XP_005255181.1:p.Thr1378Ser
XM_005255125.3:c.3760A>T	XP_005255182.1:p.Thr1254Ser
XM_006720848.2:c.4133+718A>T	XP_006720911.1:n.4133+718A>T
XM_011522380.1:c.4123A>T	XP_011520682.1:p.Thr1375Ser
XM_011522381.1:c.3424A>T	XP_011520683.1:p.Thr1142Ser
XM_005255124.4:c.4132A>T	XP_005255181.1:p.Thr1378Ser
XM_005255125.4:c.3760A>T	XP_005255182.1:p.Thr1254Ser
XM_006720848.3:c.4133+718A>T	XP_006720911.1:n.4133+718A>T
XM_011522381.2:c.3424A>T	XP_011520683.1:p.Thr1142Ser
XM_017022944.1:c.4171A>T	XP_016878433.1:p.Thr1391Ser
NM_004380.3:c.4177A>T MANE Select	NP_004371.2:p.Thr1393Ser