Canonical Allele Identifier: CA394550869

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 975521
• ClinVar RCV Id: RCV001252203
• dbSNP Id: rs2051794294
• MyVariant Identifiers: chr16:g.3778046C>G (hg19) ; chr16:g.3728045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728045C>G , CM000678.2:g.3728045C>G	GRCh38
NC_000016.9:g.3778046C>G , CM000678.1:g.3778046C>G	GRCh37
NC_000016.8:g.3718047C>G	NCBI36
NG_009873.1:g.157076G>C
NG_009873.2:g.157669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7002G>C MANE Select	ENSP00000262367.5:p.Gln2334His
ENST00000262367.9:c.7002G>C	ENSP00000262367.5:p.Gln2334His
ENST00000382070.7:c.6888G>C	ENSP00000371502.3:p.Gln2296His
NM_001079846.1:c.6888G>C	NP_001073315.1:p.Gln2296His
NM_004380.2:c.7002G>C	NP_004371.2:p.Gln2334His
XM_005255124.3:c.6957G>C	XP_005255181.1:p.Gln2319His
XM_005255125.3:c.6585G>C	XP_005255182.1:p.Gln2195His
XM_006720848.2:c.6741G>C	XP_006720911.1:p.Gln2247His
XM_011522380.1:c.6948G>C	XP_011520682.1:p.Gln2316His
XM_011522381.1:c.6249G>C	XP_011520683.1:p.Gln2083His
XM_005255124.4:c.6957G>C	XP_005255181.1:p.Gln2319His
XM_005255125.4:c.6585G>C	XP_005255182.1:p.Gln2195His
XM_006720848.3:c.6741G>C	XP_006720911.1:p.Gln2247His
XM_011522381.2:c.6249G>C	XP_011520683.1:p.Gln2083His
XM_017022944.1:c.6996G>C	XP_016878433.1:p.Gln2332His
NM_004380.3:c.7002G>C MANE Select	NP_004371.2:p.Gln2334His