Canonical Allele Identifier: CA394557835

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779872A>T (hg19) ; chr16:g.3729871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729871A>T , CM000678.2:g.3729871A>T	GRCh38
NC_000016.9:g.3779872A>T , CM000678.1:g.3779872A>T	GRCh37
NC_000016.8:g.3719873A>T	NCBI36
NG_009873.1:g.155250T>A
NG_009873.2:g.155843T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5176T>A MANE Select	ENSP00000262367.5:p.Tyr1726Asn
ENST00000262367.9:c.5176T>A	ENSP00000262367.5:p.Tyr1726Asn
ENST00000382070.7:c.5062T>A	ENSP00000371502.3:p.Tyr1688Asn
NM_001079846.1:c.5062T>A	NP_001073315.1:p.Tyr1688Asn
NM_004380.2:c.5176T>A	NP_004371.2:p.Tyr1726Asn
XM_005255124.3:c.5131T>A	XP_005255181.1:p.Tyr1711Asn
XM_005255125.3:c.4759T>A	XP_005255182.1:p.Tyr1587Asn
XM_006720848.2:c.4915T>A	XP_006720911.1:p.Tyr1639Asn
XM_011522380.1:c.5122T>A	XP_011520682.1:p.Tyr1708Asn
XM_011522381.1:c.4423T>A	XP_011520683.1:p.Tyr1475Asn
XM_005255124.4:c.5131T>A	XP_005255181.1:p.Tyr1711Asn
XM_005255125.4:c.4759T>A	XP_005255182.1:p.Tyr1587Asn
XM_006720848.3:c.4915T>A	XP_006720911.1:p.Tyr1639Asn
XM_011522381.2:c.4423T>A	XP_011520683.1:p.Tyr1475Asn
XM_017022944.1:c.5170T>A	XP_016878433.1:p.Tyr1724Asn
NM_004380.3:c.5176T>A MANE Select	NP_004371.2:p.Tyr1726Asn