Canonical Allele Identifier: CA394563798

Gene: CREBBP

Linked Data

• dbSNP Id: rs1303444757
• gnomAD v4: 16-3736745-G-A
• MyVariant Identifiers: chr16:g.3786746G>A (hg19) ; chr16:g.3736745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736745G>A , CM000678.2:g.3736745G>A	GRCh38
NC_000016.9:g.3786746G>A , CM000678.1:g.3786746G>A	GRCh37
NC_000016.8:g.3726747G>A	NCBI36
NG_009873.1:g.148376C>T
NG_009873.2:g.148969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4465C>T MANE Select	ENSP00000262367.5:p.Pro1489Ser
ENST00000262367.9:c.4465C>T	ENSP00000262367.5:p.Pro1489Ser
ENST00000382070.7:c.4351C>T	ENSP00000371502.3:p.Pro1451Ser
ENST00000570939.2:c.3100C>T	ENSP00000461002.2:p.Pro1034Ser
ENST00000571763.5:n.255C>T
ENST00000574740.1:n.286C>T
ENST00000576720.1:n.3288C>T
NM_001079846.1:c.4351C>T	NP_001073315.1:p.Pro1451Ser
NM_004380.2:c.4465C>T	NP_004371.2:p.Pro1489Ser
XM_005255124.3:c.4420C>T	XP_005255181.1:p.Pro1474Ser
XM_005255125.3:c.4048C>T	XP_005255182.1:p.Pro1350Ser
XM_006720848.2:c.4204C>T	XP_006720911.1:p.Pro1402Ser
XM_011522380.1:c.4411C>T	XP_011520682.1:p.Pro1471Ser
XM_011522381.1:c.3712C>T	XP_011520683.1:p.Pro1238Ser
XM_005255124.4:c.4420C>T	XP_005255181.1:p.Pro1474Ser
XM_005255125.4:c.4048C>T	XP_005255182.1:p.Pro1350Ser
XM_006720848.3:c.4204C>T	XP_006720911.1:p.Pro1402Ser
XM_011522381.2:c.3712C>T	XP_011520683.1:p.Pro1238Ser
XM_017022944.1:c.4459C>T	XP_016878433.1:p.Pro1487Ser
NM_004380.3:c.4465C>T MANE Select	NP_004371.2:p.Pro1489Ser