Canonical Allele Identifier: CA394553929

Gene: CREBBP

Linked Data

• dbSNP Id: rs758905484
• MyVariant Identifiers: chr16:g.3778858G>A (hg19) ; chr16:g.3728857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728857G>A , CM000678.2:g.3728857G>A	GRCh38
NC_000016.9:g.3778858G>A , CM000678.1:g.3778858G>A	GRCh37
NC_000016.8:g.3718859G>A	NCBI36
NG_009873.1:g.156264C>T
NG_009873.2:g.156857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6190C>T MANE Select	ENSP00000262367.5:p.Pro2064Ser
ENST00000262367.9:c.6190C>T	ENSP00000262367.5:p.Pro2064Ser
ENST00000382070.7:c.6076C>T	ENSP00000371502.3:p.Pro2026Ser
NM_001079846.1:c.6076C>T	NP_001073315.1:p.Pro2026Ser
NM_004380.2:c.6190C>T	NP_004371.2:p.Pro2064Ser
XM_005255124.3:c.6145C>T	XP_005255181.1:p.Pro2049Ser
XM_005255125.3:c.5773C>T	XP_005255182.1:p.Pro1925Ser
XM_006720848.2:c.5929C>T	XP_006720911.1:p.Pro1977Ser
XM_011522380.1:c.6136C>T	XP_011520682.1:p.Pro2046Ser
XM_011522381.1:c.5437C>T	XP_011520683.1:p.Pro1813Ser
XM_005255124.4:c.6145C>T	XP_005255181.1:p.Pro2049Ser
XM_005255125.4:c.5773C>T	XP_005255182.1:p.Pro1925Ser
XM_006720848.3:c.5929C>T	XP_006720911.1:p.Pro1977Ser
XM_011522381.2:c.5437C>T	XP_011520683.1:p.Pro1813Ser
XM_017022944.1:c.6184C>T	XP_016878433.1:p.Pro2062Ser
NM_004380.3:c.6190C>T MANE Select	NP_004371.2:p.Pro2064Ser