Canonical Allele Identifier: CA394556163

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310311
• MyVariant Identifiers: chr16:g.3779542T>A (hg19) ; chr16:g.3729541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729541T>A , CM000678.2:g.3729541T>A	GRCh38
NC_000016.9:g.3779542T>A , CM000678.1:g.3779542T>A	GRCh37
NC_000016.8:g.3719543T>A	NCBI36
NG_009873.1:g.155580A>T
NG_009873.2:g.156173A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5506A>T MANE Select	ENSP00000262367.5:p.Asn1836Tyr
ENST00000262367.9:c.5506A>T	ENSP00000262367.5:p.Asn1836Tyr
ENST00000382070.7:c.5392A>T	ENSP00000371502.3:p.Asn1798Tyr
NM_001079846.1:c.5392A>T	NP_001073315.1:p.Asn1798Tyr
NM_004380.2:c.5506A>T	NP_004371.2:p.Asn1836Tyr
XM_005255124.3:c.5461A>T	XP_005255181.1:p.Asn1821Tyr
XM_005255125.3:c.5089A>T	XP_005255182.1:p.Asn1697Tyr
XM_006720848.2:c.5245A>T	XP_006720911.1:p.Asn1749Tyr
XM_011522380.1:c.5452A>T	XP_011520682.1:p.Asn1818Tyr
XM_011522381.1:c.4753A>T	XP_011520683.1:p.Asn1585Tyr
XM_005255124.4:c.5461A>T	XP_005255181.1:p.Asn1821Tyr
XM_005255125.4:c.5089A>T	XP_005255182.1:p.Asn1697Tyr
XM_006720848.3:c.5245A>T	XP_006720911.1:p.Asn1749Tyr
XM_011522381.2:c.4753A>T	XP_011520683.1:p.Asn1585Tyr
XM_017022944.1:c.5500A>T	XP_016878433.1:p.Asn1834Tyr
NM_004380.3:c.5506A>T MANE Select	NP_004371.2:p.Asn1836Tyr