Canonical Allele Identifier: CA394554452

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306481
• gnomAD v4: 16-3728999-C-T
• MyVariant Identifiers: chr16:g.3779000C>T (hg19) ; chr16:g.3728999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728999C>T , CM000678.2:g.3728999C>T	GRCh38
NC_000016.9:g.3779000C>T , CM000678.1:g.3779000C>T	GRCh37
NC_000016.8:g.3719001C>T	NCBI36
NG_009873.1:g.156122G>A
NG_009873.2:g.156715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6048G>A MANE Select	ENSP00000262367.5:p.Met2016Ile
ENST00000262367.9:c.6048G>A	ENSP00000262367.5:p.Met2016Ile
ENST00000382070.7:c.5934G>A	ENSP00000371502.3:p.Met1978Ile
NM_001079846.1:c.5934G>A	NP_001073315.1:p.Met1978Ile
NM_004380.2:c.6048G>A	NP_004371.2:p.Met2016Ile
XM_005255124.3:c.6003G>A	XP_005255181.1:p.Met2001Ile
XM_005255125.3:c.5631G>A	XP_005255182.1:p.Met1877Ile
XM_006720848.2:c.5787G>A	XP_006720911.1:p.Met1929Ile
XM_011522380.1:c.5994G>A	XP_011520682.1:p.Met1998Ile
XM_011522381.1:c.5295G>A	XP_011520683.1:p.Met1765Ile
XM_005255124.4:c.6003G>A	XP_005255181.1:p.Met2001Ile
XM_005255125.4:c.5631G>A	XP_005255182.1:p.Met1877Ile
XM_006720848.3:c.5787G>A	XP_006720911.1:p.Met1929Ile
XM_011522381.2:c.5295G>A	XP_011520683.1:p.Met1765Ile
XM_017022944.1:c.6042G>A	XP_016878433.1:p.Met2014Ile
NM_004380.3:c.6048G>A MANE Select	NP_004371.2:p.Met2016Ile