Canonical Allele Identifier: CA394556223

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310455
• MyVariant Identifiers: chr16:g.3779566A>T (hg19) ; chr16:g.3729565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729565A>T , CM000678.2:g.3729565A>T	GRCh38
NC_000016.9:g.3779566A>T , CM000678.1:g.3779566A>T	GRCh37
NC_000016.8:g.3719567A>T	NCBI36
NG_009873.1:g.155556T>A
NG_009873.2:g.156149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5482T>A MANE Select	ENSP00000262367.5:p.Tyr1828Asn
ENST00000262367.9:c.5482T>A	ENSP00000262367.5:p.Tyr1828Asn
ENST00000382070.7:c.5368T>A	ENSP00000371502.3:p.Tyr1790Asn
NM_001079846.1:c.5368T>A	NP_001073315.1:p.Tyr1790Asn
NM_004380.2:c.5482T>A	NP_004371.2:p.Tyr1828Asn
XM_005255124.3:c.5437T>A	XP_005255181.1:p.Tyr1813Asn
XM_005255125.3:c.5065T>A	XP_005255182.1:p.Tyr1689Asn
XM_006720848.2:c.5221T>A	XP_006720911.1:p.Tyr1741Asn
XM_011522380.1:c.5428T>A	XP_011520682.1:p.Tyr1810Asn
XM_011522381.1:c.4729T>A	XP_011520683.1:p.Tyr1577Asn
XM_005255124.4:c.5437T>A	XP_005255181.1:p.Tyr1813Asn
XM_005255125.4:c.5065T>A	XP_005255182.1:p.Tyr1689Asn
XM_006720848.3:c.5221T>A	XP_006720911.1:p.Tyr1741Asn
XM_011522381.2:c.4729T>A	XP_011520683.1:p.Tyr1577Asn
XM_017022944.1:c.5476T>A	XP_016878433.1:p.Tyr1826Asn
NM_004380.3:c.5482T>A MANE Select	NP_004371.2:p.Tyr1828Asn