Canonical Allele Identifier: CA394556079

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310099
• gnomAD v4: 16-3729513-T-C
• MyVariant Identifiers: chr16:g.3779514T>C (hg19) ; chr16:g.3729513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729513T>C , CM000678.2:g.3729513T>C	GRCh38
NC_000016.9:g.3779514T>C , CM000678.1:g.3779514T>C	GRCh37
NC_000016.8:g.3719515T>C	NCBI36
NG_009873.1:g.155608A>G
NG_009873.2:g.156201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5534A>G MANE Select	ENSP00000262367.5:p.Asn1845Ser
ENST00000262367.9:c.5534A>G	ENSP00000262367.5:p.Asn1845Ser
ENST00000382070.7:c.5420A>G	ENSP00000371502.3:p.Asn1807Ser
NM_001079846.1:c.5420A>G	NP_001073315.1:p.Asn1807Ser
NM_004380.2:c.5534A>G	NP_004371.2:p.Asn1845Ser
XM_005255124.3:c.5489A>G	XP_005255181.1:p.Asn1830Ser
XM_005255125.3:c.5117A>G	XP_005255182.1:p.Asn1706Ser
XM_006720848.2:c.5273A>G	XP_006720911.1:p.Asn1758Ser
XM_011522380.1:c.5480A>G	XP_011520682.1:p.Asn1827Ser
XM_011522381.1:c.4781A>G	XP_011520683.1:p.Asn1594Ser
XM_005255124.4:c.5489A>G	XP_005255181.1:p.Asn1830Ser
XM_005255125.4:c.5117A>G	XP_005255182.1:p.Asn1706Ser
XM_006720848.3:c.5273A>G	XP_006720911.1:p.Asn1758Ser
XM_011522381.2:c.4781A>G	XP_011520683.1:p.Asn1594Ser
XM_017022944.1:c.5528A>G	XP_016878433.1:p.Asn1843Ser
NM_004380.3:c.5534A>G MANE Select	NP_004371.2:p.Asn1845Ser