Canonical Allele Identifier: CA394550853

Gene: CREBBP

Linked Data

• dbSNP Id: rs543811185
• gnomAD v3: 16-3728041-C-A
• gnomAD v4: 16-3728041-C-A
• MyVariant Identifiers: chr16:g.3778042C>A (hg19) ; chr16:g.3728041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728041C>A , CM000678.2:g.3728041C>A	GRCh38
NC_000016.9:g.3778042C>A , CM000678.1:g.3778042C>A	GRCh37
NC_000016.8:g.3718043C>A	NCBI36
NG_009873.1:g.157080G>T
NG_009873.2:g.157673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7006G>T MANE Select	ENSP00000262367.5:p.Ala2336Ser
ENST00000262367.9:c.7006G>T	ENSP00000262367.5:p.Ala2336Ser
ENST00000382070.7:c.6892G>T	ENSP00000371502.3:p.Ala2298Ser
NM_001079846.1:c.6892G>T	NP_001073315.1:p.Ala2298Ser
NM_004380.2:c.7006G>T	NP_004371.2:p.Ala2336Ser
XM_005255124.3:c.6961G>T	XP_005255181.1:p.Ala2321Ser
XM_005255125.3:c.6589G>T	XP_005255182.1:p.Ala2197Ser
XM_006720848.2:c.6745G>T	XP_006720911.1:p.Ala2249Ser
XM_011522380.1:c.6952G>T	XP_011520682.1:p.Ala2318Ser
XM_011522381.1:c.6253G>T	XP_011520683.1:p.Ala2085Ser
XM_005255124.4:c.6961G>T	XP_005255181.1:p.Ala2321Ser
XM_005255125.4:c.6589G>T	XP_005255182.1:p.Ala2197Ser
XM_006720848.3:c.6745G>T	XP_006720911.1:p.Ala2249Ser
XM_011522381.2:c.6253G>T	XP_011520683.1:p.Ala2085Ser
XM_017022944.1:c.7000G>T	XP_016878433.1:p.Ala2334Ser
NM_004380.3:c.7006G>T MANE Select	NP_004371.2:p.Ala2336Ser