Canonical Allele Identifier: CA394550757

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778018G>C (hg19) ; chr16:g.3728017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728017G>C , CM000678.2:g.3728017G>C	GRCh38
NC_000016.9:g.3778018G>C , CM000678.1:g.3778018G>C	GRCh37
NC_000016.8:g.3718019G>C	NCBI36
NG_009873.1:g.157104C>G
NG_009873.2:g.157697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7030C>G MANE Select	ENSP00000262367.5:p.Arg2344Gly
ENST00000262367.9:c.7030C>G	ENSP00000262367.5:p.Arg2344Gly
ENST00000382070.7:c.6916C>G	ENSP00000371502.3:p.Arg2306Gly
NM_001079846.1:c.6916C>G	NP_001073315.1:p.Arg2306Gly
NM_004380.2:c.7030C>G	NP_004371.2:p.Arg2344Gly
XM_005255124.3:c.6985C>G	XP_005255181.1:p.Arg2329Gly
XM_005255125.3:c.6613C>G	XP_005255182.1:p.Arg2205Gly
XM_006720848.2:c.6769C>G	XP_006720911.1:p.Arg2257Gly
XM_011522380.1:c.6976C>G	XP_011520682.1:p.Arg2326Gly
XM_011522381.1:c.6277C>G	XP_011520683.1:p.Arg2093Gly
XM_005255124.4:c.6985C>G	XP_005255181.1:p.Arg2329Gly
XM_005255125.4:c.6613C>G	XP_005255182.1:p.Arg2205Gly
XM_006720848.3:c.6769C>G	XP_006720911.1:p.Arg2257Gly
XM_011522381.2:c.6277C>G	XP_011520683.1:p.Arg2093Gly
XM_017022944.1:c.7024C>G	XP_016878433.1:p.Arg2342Gly
NM_004380.3:c.7030C>G MANE Select	NP_004371.2:p.Arg2344Gly