Canonical Allele Identifier: CA394550390

Gene: CREBBP

Linked Data

• dbSNP Id: rs1352644449
• gnomAD v2: 16-3777877-T-A
• MyVariant Identifiers: chr16:g.3777877T>A (hg19) ; chr16:g.3727876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727876T>A , CM000678.2:g.3727876T>A	GRCh38
NC_000016.9:g.3777877T>A , CM000678.1:g.3777877T>A	GRCh37
NC_000016.8:g.3717878T>A	NCBI36
NG_009873.1:g.157245A>T
NG_009873.2:g.157838A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7171A>T MANE Select	ENSP00000262367.5:p.Met2391Leu
ENST00000262367.9:c.7171A>T	ENSP00000262367.5:p.Met2391Leu
ENST00000382070.7:c.7057A>T	ENSP00000371502.3:p.Met2353Leu
NM_001079846.1:c.7057A>T	NP_001073315.1:p.Met2353Leu
NM_004380.2:c.7171A>T	NP_004371.2:p.Met2391Leu
XM_005255124.3:c.7126A>T	XP_005255181.1:p.Met2376Leu
XM_005255125.3:c.6754A>T	XP_005255182.1:p.Met2252Leu
XM_006720848.2:c.6910A>T	XP_006720911.1:p.Met2304Leu
XM_011522380.1:c.7117A>T	XP_011520682.1:p.Met2373Leu
XM_011522381.1:c.6418A>T	XP_011520683.1:p.Met2140Leu
XM_005255124.4:c.7126A>T	XP_005255181.1:p.Met2376Leu
XM_005255125.4:c.6754A>T	XP_005255182.1:p.Met2252Leu
XM_006720848.3:c.6910A>T	XP_006720911.1:p.Met2304Leu
XM_011522381.2:c.6418A>T	XP_011520683.1:p.Met2140Leu
XM_017022944.1:c.7165A>T	XP_016878433.1:p.Met2389Leu
NM_004380.3:c.7171A>T MANE Select	NP_004371.2:p.Met2391Leu