Canonical Allele Identifier: CA394563486

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052070248
• gnomAD v3: 16-3736692-C-G
• gnomAD v4: 16-3736692-C-G
• MyVariant Identifiers: chr16:g.3786693C>G (hg19) ; chr16:g.3736692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736692C>G , CM000678.2:g.3736692C>G	GRCh38
NC_000016.9:g.3786693C>G , CM000678.1:g.3786693C>G	GRCh37
NC_000016.8:g.3726694C>G	NCBI36
NG_009873.1:g.148429G>C
NG_009873.2:g.149022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4518G>C MANE Select	ENSP00000262367.5:p.Met1506Ile
ENST00000262367.9:c.4518G>C	ENSP00000262367.5:p.Met1506Ile
ENST00000382070.7:c.4404G>C	ENSP00000371502.3:p.Met1468Ile
ENST00000570939.2:c.3153G>C	ENSP00000461002.2:p.Met1051Ile
ENST00000571763.5:n.308G>C
ENST00000574740.1:n.339G>C
ENST00000576720.1:n.3341G>C
NM_001079846.1:c.4404G>C	NP_001073315.1:p.Met1468Ile
NM_004380.2:c.4518G>C	NP_004371.2:p.Met1506Ile
XM_005255124.3:c.4473G>C	XP_005255181.1:p.Met1491Ile
XM_005255125.3:c.4101G>C	XP_005255182.1:p.Met1367Ile
XM_006720848.2:c.4257G>C	XP_006720911.1:p.Met1419Ile
XM_011522380.1:c.4464G>C	XP_011520682.1:p.Met1488Ile
XM_011522381.1:c.3765G>C	XP_011520683.1:p.Met1255Ile
XM_005255124.4:c.4473G>C	XP_005255181.1:p.Met1491Ile
XM_005255125.4:c.4101G>C	XP_005255182.1:p.Met1367Ile
XM_006720848.3:c.4257G>C	XP_006720911.1:p.Met1419Ile
XM_011522381.2:c.3765G>C	XP_011520683.1:p.Met1255Ile
XM_017022944.1:c.4512G>C	XP_016878433.1:p.Met1504Ile
NM_004380.3:c.4518G>C MANE Select	NP_004371.2:p.Met1506Ile