Canonical Allele Identifier: CA394550094

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777737C>G (hg19) ; chr16:g.3727736C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727736C>G , CM000678.2:g.3727736C>G	GRCh38
NC_000016.9:g.3777737C>G , CM000678.1:g.3777737C>G	GRCh37
NC_000016.8:g.3717738C>G	NCBI36
NG_009873.1:g.157385G>C
NG_009873.2:g.157978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7311G>C MANE Select	ENSP00000262367.5:p.Lys2437Asn
ENST00000262367.9:c.7311G>C	ENSP00000262367.5:p.Lys2437Asn
ENST00000382070.7:c.7197G>C	ENSP00000371502.3:p.Lys2399Asn
NM_001079846.1:c.7197G>C	NP_001073315.1:p.Lys2399Asn
NM_004380.2:c.7311G>C	NP_004371.2:p.Lys2437Asn
XM_005255124.3:c.7266G>C	XP_005255181.1:p.Lys2422Asn
XM_005255125.3:c.6894G>C	XP_005255182.1:p.Lys2298Asn
XM_006720848.2:c.7050G>C	XP_006720911.1:p.Lys2350Asn
XM_011522380.1:c.7257G>C	XP_011520682.1:p.Lys2419Asn
XM_011522381.1:c.6558G>C	XP_011520683.1:p.Lys2186Asn
XM_005255124.4:c.7266G>C	XP_005255181.1:p.Lys2422Asn
XM_005255125.4:c.6894G>C	XP_005255182.1:p.Lys2298Asn
XM_006720848.3:c.7050G>C	XP_006720911.1:p.Lys2350Asn
XM_011522381.2:c.6558G>C	XP_011520683.1:p.Lys2186Asn
XM_017022944.1:c.7305G>C	XP_016878433.1:p.Lys2435Asn
NM_004380.3:c.7311G>C MANE Select	NP_004371.2:p.Lys2437Asn