Canonical Allele Identifier: CA394554008

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305766
• gnomAD v4: 16-3728883-C-T
• MyVariant Identifiers: chr16:g.3778884C>T (hg19) ; chr16:g.3728883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728883C>T , CM000678.2:g.3728883C>T	GRCh38
NC_000016.9:g.3778884C>T , CM000678.1:g.3778884C>T	GRCh37
NC_000016.8:g.3718885C>T	NCBI36
NG_009873.1:g.156238G>A
NG_009873.2:g.156831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6164G>A MANE Select	ENSP00000262367.5:p.Ser2055Asn
ENST00000262367.9:c.6164G>A	ENSP00000262367.5:p.Ser2055Asn
ENST00000382070.7:c.6050G>A	ENSP00000371502.3:p.Ser2017Asn
NM_001079846.1:c.6050G>A	NP_001073315.1:p.Ser2017Asn
NM_004380.2:c.6164G>A	NP_004371.2:p.Ser2055Asn
XM_005255124.3:c.6119G>A	XP_005255181.1:p.Ser2040Asn
XM_005255125.3:c.5747G>A	XP_005255182.1:p.Ser1916Asn
XM_006720848.2:c.5903G>A	XP_006720911.1:p.Ser1968Asn
XM_011522380.1:c.6110G>A	XP_011520682.1:p.Ser2037Asn
XM_011522381.1:c.5411G>A	XP_011520683.1:p.Ser1804Asn
XM_005255124.4:c.6119G>A	XP_005255181.1:p.Ser2040Asn
XM_005255125.4:c.5747G>A	XP_005255182.1:p.Ser1916Asn
XM_006720848.3:c.5903G>A	XP_006720911.1:p.Ser1968Asn
XM_011522381.2:c.5411G>A	XP_011520683.1:p.Ser1804Asn
XM_017022944.1:c.6158G>A	XP_016878433.1:p.Ser2053Asn
NM_004380.3:c.6164G>A MANE Select	NP_004371.2:p.Ser2055Asn