Canonical Allele Identifier: CA394551526

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141203018
• gnomAD v4: 16-3770851-G-A
• MyVariant Identifiers: chr16:g.3820852G>A (hg19) ; chr16:g.3770851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770851G>A , CM000678.2:g.3770851G>A	GRCh38
NC_000016.9:g.3820852G>A , CM000678.1:g.3820852G>A	GRCh37
NC_000016.8:g.3760853G>A	NCBI36
NG_009873.1:g.114270C>T
NG_009873.2:g.114863C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2599C>T MANE Select	ENSP00000262367.5:p.Pro867Ser
ENST00000262367.9:c.2599C>T	ENSP00000262367.5:p.Pro867Ser
ENST00000382070.7:c.2485C>T	ENSP00000371502.3:p.Pro829Ser
ENST00000570939.2:c.1204C>T	ENSP00000461002.2:p.Pro402Ser
NM_001079846.1:c.2485C>T	NP_001073315.1:p.Pro829Ser
NM_004380.2:c.2599C>T	NP_004371.2:p.Pro867Ser
XM_005255124.3:c.2554C>T	XP_005255181.1:p.Pro852Ser
XM_005255125.3:c.2464-1498C>T	XP_005255182.1:n.2464-1498C>T
XM_006720848.2:c.2599C>T	XP_006720911.1:p.Pro867Ser
XM_011522380.1:c.2545C>T	XP_011520682.1:p.Pro849Ser
XM_011522381.1:c.1846C>T	XP_011520683.1:p.Pro616Ser
XM_011522382.1:c.2599C>T	XP_011520684.1:p.Pro867Ser
XM_005255124.4:c.2554C>T	XP_005255181.1:p.Pro852Ser
XM_005255125.4:c.2464-1498C>T	XP_005255182.1:n.2464-1498C>T
XM_006720848.3:c.2599C>T	XP_006720911.1:p.Pro867Ser
XM_011522381.2:c.1846C>T	XP_011520683.1:p.Pro616Ser
XM_011522382.3:c.2599C>T	XP_011520684.1:p.Pro867Ser
XM_017022944.1:c.2593C>T	XP_016878433.1:p.Pro865Ser
NM_004380.3:c.2599C>T MANE Select	NP_004371.2:p.Pro867Ser