Canonical Allele Identifier: CA394550344

Gene: CREBBP

Linked Data

• dbSNP Id: rs1322537886
• gnomAD v2: 16-3777857-C-G
• MyVariant Identifiers: chr16:g.3777857C>G (hg19) ; chr16:g.3727856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727856C>G , CM000678.2:g.3727856C>G	GRCh38
NC_000016.9:g.3777857C>G , CM000678.1:g.3777857C>G	GRCh37
NC_000016.8:g.3717858C>G	NCBI36
NG_009873.1:g.157265G>C
NG_009873.2:g.157858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7191G>C MANE Select	ENSP00000262367.5:p.Gln2397His
ENST00000262367.9:c.7191G>C	ENSP00000262367.5:p.Gln2397His
ENST00000382070.7:c.7077G>C	ENSP00000371502.3:p.Gln2359His
NM_001079846.1:c.7077G>C	NP_001073315.1:p.Gln2359His
NM_004380.2:c.7191G>C	NP_004371.2:p.Gln2397His
XM_005255124.3:c.7146G>C	XP_005255181.1:p.Gln2382His
XM_005255125.3:c.6774G>C	XP_005255182.1:p.Gln2258His
XM_006720848.2:c.6930G>C	XP_006720911.1:p.Gln2310His
XM_011522380.1:c.7137G>C	XP_011520682.1:p.Gln2379His
XM_011522381.1:c.6438G>C	XP_011520683.1:p.Gln2146His
XM_005255124.4:c.7146G>C	XP_005255181.1:p.Gln2382His
XM_005255125.4:c.6774G>C	XP_005255182.1:p.Gln2258His
XM_006720848.3:c.6930G>C	XP_006720911.1:p.Gln2310His
XM_011522381.2:c.6438G>C	XP_011520683.1:p.Gln2146His
XM_017022944.1:c.7185G>C	XP_016878433.1:p.Gln2395His
NM_004380.3:c.7191G>C MANE Select	NP_004371.2:p.Gln2397His