Canonical Allele Identifier: CA394557013

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779668A>C (hg19) ; chr16:g.3729667A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729667A>C , CM000678.2:g.3729667A>C	GRCh38
NC_000016.9:g.3779668A>C , CM000678.1:g.3779668A>C	GRCh37
NC_000016.8:g.3719669A>C	NCBI36
NG_009873.1:g.155454T>G
NG_009873.2:g.156047T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5380T>G MANE Select	ENSP00000262367.5:p.Ser1794Ala
ENST00000262367.9:c.5380T>G	ENSP00000262367.5:p.Ser1794Ala
ENST00000382070.7:c.5266T>G	ENSP00000371502.3:p.Ser1756Ala
NM_001079846.1:c.5266T>G	NP_001073315.1:p.Ser1756Ala
NM_004380.2:c.5380T>G	NP_004371.2:p.Ser1794Ala
XM_005255124.3:c.5335T>G	XP_005255181.1:p.Ser1779Ala
XM_005255125.3:c.4963T>G	XP_005255182.1:p.Ser1655Ala
XM_006720848.2:c.5119T>G	XP_006720911.1:p.Ser1707Ala
XM_011522380.1:c.5326T>G	XP_011520682.1:p.Ser1776Ala
XM_011522381.1:c.4627T>G	XP_011520683.1:p.Ser1543Ala
XM_005255124.4:c.5335T>G	XP_005255181.1:p.Ser1779Ala
XM_005255125.4:c.4963T>G	XP_005255182.1:p.Ser1655Ala
XM_006720848.3:c.5119T>G	XP_006720911.1:p.Ser1707Ala
XM_011522381.2:c.4627T>G	XP_011520683.1:p.Ser1543Ala
XM_017022944.1:c.5374T>G	XP_016878433.1:p.Ser1792Ala
NM_004380.3:c.5380T>G MANE Select	NP_004371.2:p.Ser1794Ala