Canonical Allele Identifier: CA394563404

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786677C>G (hg19) ; chr16:g.3736676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736676C>G , CM000678.2:g.3736676C>G	GRCh38
NC_000016.9:g.3786677C>G , CM000678.1:g.3786677C>G	GRCh37
NC_000016.8:g.3726678C>G	NCBI36
NG_009873.1:g.148445G>C
NG_009873.2:g.149038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4534G>C MANE Select	ENSP00000262367.5:p.Ala1512Pro
ENST00000262367.9:c.4534G>C	ENSP00000262367.5:p.Ala1512Pro
ENST00000382070.7:c.4420G>C	ENSP00000371502.3:p.Ala1474Pro
ENST00000570939.2:c.3169G>C	ENSP00000461002.2:p.Ala1057Pro
ENST00000571763.5:n.324G>C
ENST00000574740.1:n.355G>C
ENST00000576720.1:n.3357G>C
NM_001079846.1:c.4420G>C	NP_001073315.1:p.Ala1474Pro
NM_004380.2:c.4534G>C	NP_004371.2:p.Ala1512Pro
XM_005255124.3:c.4489G>C	XP_005255181.1:p.Ala1497Pro
XM_005255125.3:c.4117G>C	XP_005255182.1:p.Ala1373Pro
XM_006720848.2:c.4273G>C	XP_006720911.1:p.Ala1425Pro
XM_011522380.1:c.4480G>C	XP_011520682.1:p.Ala1494Pro
XM_011522381.1:c.3781G>C	XP_011520683.1:p.Ala1261Pro
XM_005255124.4:c.4489G>C	XP_005255181.1:p.Ala1497Pro
XM_005255125.4:c.4117G>C	XP_005255182.1:p.Ala1373Pro
XM_006720848.3:c.4273G>C	XP_006720911.1:p.Ala1425Pro
XM_011522381.2:c.3781G>C	XP_011520683.1:p.Ala1261Pro
XM_017022944.1:c.4528G>C	XP_016878433.1:p.Ala1510Pro
NM_004380.3:c.4534G>C MANE Select	NP_004371.2:p.Ala1512Pro