Canonical Allele Identifier: CA394551044

Gene: CREBBP

Linked Data

• dbSNP Id: rs771682806
• gnomAD v2: 16-3778088-C-G
• gnomAD v4: 16-3728087-C-G
• MyVariant Identifiers: chr16:g.3778088C>G (hg19) ; chr16:g.3728087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728087C>G , CM000678.2:g.3728087C>G	GRCh38
NC_000016.9:g.3778088C>G , CM000678.1:g.3778088C>G	GRCh37
NC_000016.8:g.3718089C>G	NCBI36
NG_009873.1:g.157034G>C
NG_009873.2:g.157627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6960G>C MANE Select	ENSP00000262367.5:p.Met2320Ile
ENST00000262367.9:c.6960G>C	ENSP00000262367.5:p.Met2320Ile
ENST00000382070.7:c.6846G>C	ENSP00000371502.3:p.Met2282Ile
NM_001079846.1:c.6846G>C	NP_001073315.1:p.Met2282Ile
NM_004380.2:c.6960G>C	NP_004371.2:p.Met2320Ile
XM_005255124.3:c.6915G>C	XP_005255181.1:p.Met2305Ile
XM_005255125.3:c.6543G>C	XP_005255182.1:p.Met2181Ile
XM_006720848.2:c.6699G>C	XP_006720911.1:p.Met2233Ile
XM_011522380.1:c.6906G>C	XP_011520682.1:p.Met2302Ile
XM_011522381.1:c.6207G>C	XP_011520683.1:p.Met2069Ile
XM_005255124.4:c.6915G>C	XP_005255181.1:p.Met2305Ile
XM_005255125.4:c.6543G>C	XP_005255182.1:p.Met2181Ile
XM_006720848.3:c.6699G>C	XP_006720911.1:p.Met2233Ile
XM_011522381.2:c.6207G>C	XP_011520683.1:p.Met2069Ile
XM_017022944.1:c.6954G>C	XP_016878433.1:p.Met2318Ile
NM_004380.3:c.6960G>C MANE Select	NP_004371.2:p.Met2320Ile