Canonical Allele Identifier: CA7868973

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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