Canonical Allele Identifier: CA394563993

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2498648
• ClinVar RCV Id: RCV003222857
• dbSNP Id: rs2151329999
• MyVariant Identifiers: chr16:g.3786788G>A (hg19) ; chr16:g.3736787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736787G>A , CM000678.2:g.3736787G>A	GRCh38
NC_000016.9:g.3786788G>A , CM000678.1:g.3786788G>A	GRCh37
NC_000016.8:g.3726789G>A	NCBI36
NG_009873.1:g.148334C>T
NG_009873.2:g.148927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4423C>T MANE Select	ENSP00000262367.5:p.Pro1475Ser
ENST00000262367.9:c.4423C>T	ENSP00000262367.5:p.Pro1475Ser
ENST00000382070.7:c.4309C>T	ENSP00000371502.3:p.Pro1437Ser
ENST00000570939.2:c.3058C>T	ENSP00000461002.2:p.Pro1020Ser
ENST00000571763.5:n.213C>T
ENST00000574740.1:n.244C>T
ENST00000576720.1:n.3246C>T
NM_001079846.1:c.4309C>T	NP_001073315.1:p.Pro1437Ser
NM_004380.2:c.4423C>T	NP_004371.2:p.Pro1475Ser
XM_005255124.3:c.4378C>T	XP_005255181.1:p.Pro1460Ser
XM_005255125.3:c.4006C>T	XP_005255182.1:p.Pro1336Ser
XM_006720848.2:c.4162C>T	XP_006720911.1:p.Pro1388Ser
XM_011522380.1:c.4369C>T	XP_011520682.1:p.Pro1457Ser
XM_011522381.1:c.3670C>T	XP_011520683.1:p.Pro1224Ser
XM_005255124.4:c.4378C>T	XP_005255181.1:p.Pro1460Ser
XM_005255125.4:c.4006C>T	XP_005255182.1:p.Pro1336Ser
XM_006720848.3:c.4162C>T	XP_006720911.1:p.Pro1388Ser
XM_011522381.2:c.3670C>T	XP_011520683.1:p.Pro1224Ser
XM_017022944.1:c.4417C>T	XP_016878433.1:p.Pro1473Ser
NM_004380.3:c.4423C>T MANE Select	NP_004371.2:p.Pro1475Ser