Canonical Allele Identifier: CA394551029

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300156
• MyVariant Identifiers: chr16:g.3778084A>G (hg19) ; chr16:g.3728083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728083A>G , CM000678.2:g.3728083A>G	GRCh38
NC_000016.9:g.3778084A>G , CM000678.1:g.3778084A>G	GRCh37
NC_000016.8:g.3718085A>G	NCBI36
NG_009873.1:g.157038T>C
NG_009873.2:g.157631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6964T>C MANE Select	ENSP00000262367.5:p.Ser2322Pro
ENST00000262367.9:c.6964T>C	ENSP00000262367.5:p.Ser2322Pro
ENST00000382070.7:c.6850T>C	ENSP00000371502.3:p.Ser2284Pro
NM_001079846.1:c.6850T>C	NP_001073315.1:p.Ser2284Pro
NM_004380.2:c.6964T>C	NP_004371.2:p.Ser2322Pro
XM_005255124.3:c.6919T>C	XP_005255181.1:p.Ser2307Pro
XM_005255125.3:c.6547T>C	XP_005255182.1:p.Ser2183Pro
XM_006720848.2:c.6703T>C	XP_006720911.1:p.Ser2235Pro
XM_011522380.1:c.6910T>C	XP_011520682.1:p.Ser2304Pro
XM_011522381.1:c.6211T>C	XP_011520683.1:p.Ser2071Pro
XM_005255124.4:c.6919T>C	XP_005255181.1:p.Ser2307Pro
XM_005255125.4:c.6547T>C	XP_005255182.1:p.Ser2183Pro
XM_006720848.3:c.6703T>C	XP_006720911.1:p.Ser2235Pro
XM_011522381.2:c.6211T>C	XP_011520683.1:p.Ser2071Pro
XM_017022944.1:c.6958T>C	XP_016878433.1:p.Ser2320Pro
NM_004380.3:c.6964T>C MANE Select	NP_004371.2:p.Ser2322Pro