Canonical Allele Identifier: CA394554458

Gene: CREBBP

Linked Data

• dbSNP Id: rs1189648750
• gnomAD v2: 16-3779002-T-A
• gnomAD v4: 16-3729001-T-A
• MyVariant Identifiers: chr16:g.3779002T>A (hg19) ; chr16:g.3729001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729001T>A , CM000678.2:g.3729001T>A	GRCh38
NC_000016.9:g.3779002T>A , CM000678.1:g.3779002T>A	GRCh37
NC_000016.8:g.3719003T>A	NCBI36
NG_009873.1:g.156120A>T
NG_009873.2:g.156713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6046A>T MANE Select	ENSP00000262367.5:p.Met2016Leu
ENST00000262367.9:c.6046A>T	ENSP00000262367.5:p.Met2016Leu
ENST00000382070.7:c.5932A>T	ENSP00000371502.3:p.Met1978Leu
NM_001079846.1:c.5932A>T	NP_001073315.1:p.Met1978Leu
NM_004380.2:c.6046A>T	NP_004371.2:p.Met2016Leu
XM_005255124.3:c.6001A>T	XP_005255181.1:p.Met2001Leu
XM_005255125.3:c.5629A>T	XP_005255182.1:p.Met1877Leu
XM_006720848.2:c.5785A>T	XP_006720911.1:p.Met1929Leu
XM_011522380.1:c.5992A>T	XP_011520682.1:p.Met1998Leu
XM_011522381.1:c.5293A>T	XP_011520683.1:p.Met1765Leu
XM_005255124.4:c.6001A>T	XP_005255181.1:p.Met2001Leu
XM_005255125.4:c.5629A>T	XP_005255182.1:p.Met1877Leu
XM_006720848.3:c.5785A>T	XP_006720911.1:p.Met1929Leu
XM_011522381.2:c.5293A>T	XP_011520683.1:p.Met1765Leu
XM_017022944.1:c.6040A>T	XP_016878433.1:p.Met2014Leu
NM_004380.3:c.6046A>T MANE Select	NP_004371.2:p.Met2016Leu