Canonical Allele Identifier: CA394564023

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330092
• MyVariant Identifiers: chr16:g.3786801G>C (hg19) ; chr16:g.3736800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736800G>C , CM000678.2:g.3736800G>C	GRCh38
NC_000016.9:g.3786801G>C , CM000678.1:g.3786801G>C	GRCh37
NC_000016.8:g.3726802G>C	NCBI36
NG_009873.1:g.148321C>G
NG_009873.2:g.148914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4410C>G MANE Select	ENSP00000262367.5:p.His1470Gln
ENST00000262367.9:c.4410C>G	ENSP00000262367.5:p.His1470Gln
ENST00000382070.7:c.4296C>G	ENSP00000371502.3:p.His1432Gln
ENST00000570939.2:c.3045C>G	ENSP00000461002.2:p.His1015Gln
ENST00000571763.5:n.200C>G
ENST00000574740.1:n.231C>G
ENST00000576720.1:n.3233C>G
NM_001079846.1:c.4296C>G	NP_001073315.1:p.His1432Gln
NM_004380.2:c.4410C>G	NP_004371.2:p.His1470Gln
XM_005255124.3:c.4365C>G	XP_005255181.1:p.His1455Gln
XM_005255125.3:c.3993C>G	XP_005255182.1:p.His1331Gln
XM_006720848.2:c.4149C>G	XP_006720911.1:p.His1383Gln
XM_011522380.1:c.4356C>G	XP_011520682.1:p.His1452Gln
XM_011522381.1:c.3657C>G	XP_011520683.1:p.His1219Gln
XM_005255124.4:c.4365C>G	XP_005255181.1:p.His1455Gln
XM_005255125.4:c.3993C>G	XP_005255182.1:p.His1331Gln
XM_006720848.3:c.4149C>G	XP_006720911.1:p.His1383Gln
XM_011522381.2:c.3657C>G	XP_011520683.1:p.His1219Gln
XM_017022944.1:c.4404C>G	XP_016878433.1:p.His1468Gln
NM_004380.3:c.4410C>G MANE Select	NP_004371.2:p.His1470Gln