Canonical Allele Identifier: CA394564006

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805927
• MyVariant Identifiers: chr16:g.3786794C>A (hg19) ; chr16:g.3736793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736793C>A , CM000678.2:g.3736793C>A	GRCh38
NC_000016.9:g.3786794C>A , CM000678.1:g.3786794C>A	GRCh37
NC_000016.8:g.3726795C>A	NCBI36
NG_009873.1:g.148328G>T
NG_009873.2:g.148921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4417G>T MANE Select	ENSP00000262367.5:p.Ala1473Ser
ENST00000262367.9:c.4417G>T	ENSP00000262367.5:p.Ala1473Ser
ENST00000382070.7:c.4303G>T	ENSP00000371502.3:p.Ala1435Ser
ENST00000570939.2:c.3052G>T	ENSP00000461002.2:p.Ala1018Ser
ENST00000571763.5:n.207G>T
ENST00000574740.1:n.238G>T
ENST00000576720.1:n.3240G>T
NM_001079846.1:c.4303G>T	NP_001073315.1:p.Ala1435Ser
NM_004380.2:c.4417G>T	NP_004371.2:p.Ala1473Ser
XM_005255124.3:c.4372G>T	XP_005255181.1:p.Ala1458Ser
XM_005255125.3:c.4000G>T	XP_005255182.1:p.Ala1334Ser
XM_006720848.2:c.4156G>T	XP_006720911.1:p.Ala1386Ser
XM_011522380.1:c.4363G>T	XP_011520682.1:p.Ala1455Ser
XM_011522381.1:c.3664G>T	XP_011520683.1:p.Ala1222Ser
XM_005255124.4:c.4372G>T	XP_005255181.1:p.Ala1458Ser
XM_005255125.4:c.4000G>T	XP_005255182.1:p.Ala1334Ser
XM_006720848.3:c.4156G>T	XP_006720911.1:p.Ala1386Ser
XM_011522381.2:c.3664G>T	XP_011520683.1:p.Ala1222Ser
XM_017022944.1:c.4411G>T	XP_016878433.1:p.Ala1471Ser
NM_004380.3:c.4417G>T MANE Select	NP_004371.2:p.Ala1473Ser