Canonical Allele Identifier: CA394551050

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300201
• MyVariant Identifiers: chr16:g.3778089A>T (hg19) ; chr16:g.3728088A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728088A>T , CM000678.2:g.3728088A>T	GRCh38
NC_000016.9:g.3778089A>T , CM000678.1:g.3778089A>T	GRCh37
NC_000016.8:g.3718090A>T	NCBI36
NG_009873.1:g.157033T>A
NG_009873.2:g.157626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6959T>A MANE Select	ENSP00000262367.5:p.Met2320Lys
ENST00000262367.9:c.6959T>A	ENSP00000262367.5:p.Met2320Lys
ENST00000382070.7:c.6845T>A	ENSP00000371502.3:p.Met2282Lys
NM_001079846.1:c.6845T>A	NP_001073315.1:p.Met2282Lys
NM_004380.2:c.6959T>A	NP_004371.2:p.Met2320Lys
XM_005255124.3:c.6914T>A	XP_005255181.1:p.Met2305Lys
XM_005255125.3:c.6542T>A	XP_005255182.1:p.Met2181Lys
XM_006720848.2:c.6698T>A	XP_006720911.1:p.Met2233Lys
XM_011522380.1:c.6905T>A	XP_011520682.1:p.Met2302Lys
XM_011522381.1:c.6206T>A	XP_011520683.1:p.Met2069Lys
XM_005255124.4:c.6914T>A	XP_005255181.1:p.Met2305Lys
XM_005255125.4:c.6542T>A	XP_005255182.1:p.Met2181Lys
XM_006720848.3:c.6698T>A	XP_006720911.1:p.Met2233Lys
XM_011522381.2:c.6206T>A	XP_011520683.1:p.Met2069Lys
XM_017022944.1:c.6953T>A	XP_016878433.1:p.Met2318Lys
NM_004380.3:c.6959T>A MANE Select	NP_004371.2:p.Met2320Lys