Canonical Allele Identifier: CA394554321

Gene: CREBBP

Linked Data

• dbSNP Id: rs1360792517
• gnomAD v2: 16-3778969-G-C
• gnomAD v3: 16-3728968-G-C
• gnomAD v4: 16-3728968-G-C
• MyVariant Identifiers: chr16:g.3778969G>C (hg19) ; chr16:g.3728968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728968G>C , CM000678.2:g.3728968G>C	GRCh38
NC_000016.9:g.3778969G>C , CM000678.1:g.3778969G>C	GRCh37
NC_000016.8:g.3718970G>C	NCBI36
NG_009873.1:g.156153C>G
NG_009873.2:g.156746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6079C>G MANE Select	ENSP00000262367.5:p.Pro2027Ala
ENST00000262367.9:c.6079C>G	ENSP00000262367.5:p.Pro2027Ala
ENST00000382070.7:c.5965C>G	ENSP00000371502.3:p.Pro1989Ala
NM_001079846.1:c.5965C>G	NP_001073315.1:p.Pro1989Ala
NM_004380.2:c.6079C>G	NP_004371.2:p.Pro2027Ala
XM_005255124.3:c.6034C>G	XP_005255181.1:p.Pro2012Ala
XM_005255125.3:c.5662C>G	XP_005255182.1:p.Pro1888Ala
XM_006720848.2:c.5818C>G	XP_006720911.1:p.Pro1940Ala
XM_011522380.1:c.6025C>G	XP_011520682.1:p.Pro2009Ala
XM_011522381.1:c.5326C>G	XP_011520683.1:p.Pro1776Ala
XM_005255124.4:c.6034C>G	XP_005255181.1:p.Pro2012Ala
XM_005255125.4:c.5662C>G	XP_005255182.1:p.Pro1888Ala
XM_006720848.3:c.5818C>G	XP_006720911.1:p.Pro1940Ala
XM_011522381.2:c.5326C>G	XP_011520683.1:p.Pro1776Ala
XM_017022944.1:c.6073C>G	XP_016878433.1:p.Pro2025Ala
NM_004380.3:c.6079C>G MANE Select	NP_004371.2:p.Pro2027Ala