Canonical Allele Identifier: CA394564775

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336865
• MyVariant Identifiers: chr16:g.3789623C>G (hg19) ; chr16:g.3739622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739622C>G , CM000678.2:g.3739622C>G	GRCh38
NC_000016.9:g.3789623C>G , CM000678.1:g.3789623C>G	GRCh37
NC_000016.8:g.3729624C>G	NCBI36
NG_009873.1:g.145499G>C
NG_009873.2:g.146092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4236G>C MANE Select	ENSP00000262367.5:p.Met1412Ile
ENST00000262367.9:c.4236G>C	ENSP00000262367.5:p.Met1412Ile
ENST00000382070.7:c.4122G>C	ENSP00000371502.3:p.Met1374Ile
ENST00000570939.2:c.2871G>C	ENSP00000461002.2:p.Met957Ile
ENST00000573517.6:c.542G>C
ENST00000574740.1:n.215+777G>C
ENST00000576720.1:n.3173G>C
NM_001079846.1:c.4122G>C	NP_001073315.1:p.Met1374Ile
NM_004380.2:c.4236G>C	NP_004371.2:p.Met1412Ile
XM_005255124.3:c.4191G>C	XP_005255181.1:p.Met1397Ile
XM_005255125.3:c.3819G>C	XP_005255182.1:p.Met1273Ile
XM_006720848.2:c.4133+777G>C	XP_006720911.1:n.4133+777G>C
XM_011522380.1:c.4182G>C	XP_011520682.1:p.Met1394Ile
XM_011522381.1:c.3483G>C	XP_011520683.1:p.Met1161Ile
XM_005255124.4:c.4191G>C	XP_005255181.1:p.Met1397Ile
XM_005255125.4:c.3819G>C	XP_005255182.1:p.Met1273Ile
XM_006720848.3:c.4133+777G>C	XP_006720911.1:n.4133+777G>C
XM_011522381.2:c.3483G>C	XP_011520683.1:p.Met1161Ile
XM_017022944.1:c.4230G>C	XP_016878433.1:p.Met1410Ile
NM_004380.3:c.4236G>C MANE Select	NP_004371.2:p.Met1412Ile