Canonical Allele Identifier: CA394550555

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299345
• MyVariant Identifiers: chr16:g.3777958A>T (hg19) ; chr16:g.3727957A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727957A>T , CM000678.2:g.3727957A>T	GRCh38
NC_000016.9:g.3777958A>T , CM000678.1:g.3777958A>T	GRCh37
NC_000016.8:g.3717959A>T	NCBI36
NG_009873.1:g.157164T>A
NG_009873.2:g.157757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7090T>A MANE Select	ENSP00000262367.5:p.Ser2364Thr
ENST00000262367.9:c.7090T>A	ENSP00000262367.5:p.Ser2364Thr
ENST00000382070.7:c.6976T>A	ENSP00000371502.3:p.Ser2326Thr
NM_001079846.1:c.6976T>A	NP_001073315.1:p.Ser2326Thr
NM_004380.2:c.7090T>A	NP_004371.2:p.Ser2364Thr
XM_005255124.3:c.7045T>A	XP_005255181.1:p.Ser2349Thr
XM_005255125.3:c.6673T>A	XP_005255182.1:p.Ser2225Thr
XM_006720848.2:c.6829T>A	XP_006720911.1:p.Ser2277Thr
XM_011522380.1:c.7036T>A	XP_011520682.1:p.Ser2346Thr
XM_011522381.1:c.6337T>A	XP_011520683.1:p.Ser2113Thr
XM_005255124.4:c.7045T>A	XP_005255181.1:p.Ser2349Thr
XM_005255125.4:c.6673T>A	XP_005255182.1:p.Ser2225Thr
XM_006720848.3:c.6829T>A	XP_006720911.1:p.Ser2277Thr
XM_011522381.2:c.6337T>A	XP_011520683.1:p.Ser2113Thr
XM_017022944.1:c.7084T>A	XP_016878433.1:p.Ser2362Thr
NM_004380.3:c.7090T>A MANE Select	NP_004371.2:p.Ser2364Thr