Canonical Allele Identifier: CA394550463

Gene: CREBBP

Linked Data

• dbSNP Id: rs1161965489
• gnomAD v2: 16-3777915-G-A
• gnomAD v4: 16-3727914-G-A
• MyVariant Identifiers: chr16:g.3777915G>A (hg19) ; chr16:g.3727914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727914G>A , CM000678.2:g.3727914G>A	GRCh38
NC_000016.9:g.3777915G>A , CM000678.1:g.3777915G>A	GRCh37
NC_000016.8:g.3717916G>A	NCBI36
NG_009873.1:g.157207C>T
NG_009873.2:g.157800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7133C>T MANE Select	ENSP00000262367.5:p.Pro2378Leu
ENST00000262367.9:c.7133C>T	ENSP00000262367.5:p.Pro2378Leu
ENST00000382070.7:c.7019C>T	ENSP00000371502.3:p.Pro2340Leu
NM_001079846.1:c.7019C>T	NP_001073315.1:p.Pro2340Leu
NM_004380.2:c.7133C>T	NP_004371.2:p.Pro2378Leu
XM_005255124.3:c.7088C>T	XP_005255181.1:p.Pro2363Leu
XM_005255125.3:c.6716C>T	XP_005255182.1:p.Pro2239Leu
XM_006720848.2:c.6872C>T	XP_006720911.1:p.Pro2291Leu
XM_011522380.1:c.7079C>T	XP_011520682.1:p.Pro2360Leu
XM_011522381.1:c.6380C>T	XP_011520683.1:p.Pro2127Leu
XM_005255124.4:c.7088C>T	XP_005255181.1:p.Pro2363Leu
XM_005255125.4:c.6716C>T	XP_005255182.1:p.Pro2239Leu
XM_006720848.3:c.6872C>T	XP_006720911.1:p.Pro2291Leu
XM_011522381.2:c.6380C>T	XP_011520683.1:p.Pro2127Leu
XM_017022944.1:c.7127C>T	XP_016878433.1:p.Pro2376Leu
NM_004380.3:c.7133C>T MANE Select	NP_004371.2:p.Pro2378Leu