Canonical Allele Identifier: CA394551049

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778089A>C (hg19) ; chr16:g.3728088A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6959T>G MANE Select	ENSP00000262367.5:p.Met2320Arg
ENST00000262367.9:c.6959T>G	ENSP00000262367.5:p.Met2320Arg
ENST00000382070.7:c.6845T>G	ENSP00000371502.3:p.Met2282Arg
NM_001079846.1:c.6845T>G	NP_001073315.1:p.Met2282Arg
NM_004380.2:c.6959T>G	NP_004371.2:p.Met2320Arg
XM_005255124.3:c.6914T>G	XP_005255181.1:p.Met2305Arg
XM_005255125.3:c.6542T>G	XP_005255182.1:p.Met2181Arg
XM_006720848.2:c.6698T>G	XP_006720911.1:p.Met2233Arg
XM_011522380.1:c.6905T>G	XP_011520682.1:p.Met2302Arg
XM_011522381.1:c.6206T>G	XP_011520683.1:p.Met2069Arg
XM_005255124.4:c.6914T>G	XP_005255181.1:p.Met2305Arg
XM_005255125.4:c.6542T>G	XP_005255182.1:p.Met2181Arg
XM_006720848.3:c.6698T>G	XP_006720911.1:p.Met2233Arg
XM_011522381.2:c.6206T>G	XP_011520683.1:p.Met2069Arg
XM_017022944.1:c.6953T>G	XP_016878433.1:p.Met2318Arg
NM_004380.3:c.6959T>G MANE Select	NP_004371.2:p.Met2320Arg