Canonical Allele Identifier: CA394550818

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299828
• gnomAD v4: 16-3728032-G-C
• MyVariant Identifiers: chr16:g.3778033G>C (hg19) ; chr16:g.3728032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728032G>C , CM000678.2:g.3728032G>C	GRCh38
NC_000016.9:g.3778033G>C , CM000678.1:g.3778033G>C	GRCh37
NC_000016.8:g.3718034G>C	NCBI36
NG_009873.1:g.157089C>G
NG_009873.2:g.157682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7015C>G MANE Select	ENSP00000262367.5:p.Leu2339Val
ENST00000262367.9:c.7015C>G	ENSP00000262367.5:p.Leu2339Val
ENST00000382070.7:c.6901C>G	ENSP00000371502.3:p.Leu2301Val
NM_001079846.1:c.6901C>G	NP_001073315.1:p.Leu2301Val
NM_004380.2:c.7015C>G	NP_004371.2:p.Leu2339Val
XM_005255124.3:c.6970C>G	XP_005255181.1:p.Leu2324Val
XM_005255125.3:c.6598C>G	XP_005255182.1:p.Leu2200Val
XM_006720848.2:c.6754C>G	XP_006720911.1:p.Leu2252Val
XM_011522380.1:c.6961C>G	XP_011520682.1:p.Leu2321Val
XM_011522381.1:c.6262C>G	XP_011520683.1:p.Leu2088Val
XM_005255124.4:c.6970C>G	XP_005255181.1:p.Leu2324Val
XM_005255125.4:c.6598C>G	XP_005255182.1:p.Leu2200Val
XM_006720848.3:c.6754C>G	XP_006720911.1:p.Leu2252Val
XM_011522381.2:c.6262C>G	XP_011520683.1:p.Leu2088Val
XM_017022944.1:c.7009C>G	XP_016878433.1:p.Leu2337Val
NM_004380.3:c.7015C>G MANE Select	NP_004371.2:p.Leu2339Val