Canonical Allele Identifier: CA394551118

Gene: CREBBP

Linked Data

• dbSNP Id: rs1423142626
• gnomAD v3: 16-3728101-G-C
• gnomAD v4: 16-3728101-G-C
• MyVariant Identifiers: chr16:g.3778102G>C (hg19) ; chr16:g.3728101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728101G>C , CM000678.2:g.3728101G>C	GRCh38
NC_000016.9:g.3778102G>C , CM000678.1:g.3778102G>C	GRCh37
NC_000016.8:g.3718103G>C	NCBI36
NG_009873.1:g.157020C>G
NG_009873.2:g.157613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6946C>G MANE Select	ENSP00000262367.5:p.Pro2316Ala
ENST00000262367.9:c.6946C>G	ENSP00000262367.5:p.Pro2316Ala
ENST00000382070.7:c.6832C>G	ENSP00000371502.3:p.Pro2278Ala
NM_001079846.1:c.6832C>G	NP_001073315.1:p.Pro2278Ala
NM_004380.2:c.6946C>G	NP_004371.2:p.Pro2316Ala
XM_005255124.3:c.6901C>G	XP_005255181.1:p.Pro2301Ala
XM_005255125.3:c.6529C>G	XP_005255182.1:p.Pro2177Ala
XM_006720848.2:c.6685C>G	XP_006720911.1:p.Pro2229Ala
XM_011522380.1:c.6892C>G	XP_011520682.1:p.Pro2298Ala
XM_011522381.1:c.6193C>G	XP_011520683.1:p.Pro2065Ala
XM_005255124.4:c.6901C>G	XP_005255181.1:p.Pro2301Ala
XM_005255125.4:c.6529C>G	XP_005255182.1:p.Pro2177Ala
XM_006720848.3:c.6685C>G	XP_006720911.1:p.Pro2229Ala
XM_011522381.2:c.6193C>G	XP_011520683.1:p.Pro2065Ala
XM_017022944.1:c.6940C>G	XP_016878433.1:p.Pro2314Ala
NM_004380.3:c.6946C>G MANE Select	NP_004371.2:p.Pro2316Ala