Canonical Allele Identifier: CA394554713

Gene: CREBBP

Linked Data

• dbSNP Id: rs1302332843
• gnomAD v4: 16-3729061-C-A
• MyVariant Identifiers: chr16:g.3779062C>A (hg19) ; chr16:g.3729061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729061C>A , CM000678.2:g.3729061C>A	GRCh38
NC_000016.9:g.3779062C>A , CM000678.1:g.3779062C>A	GRCh37
NC_000016.8:g.3719063C>A	NCBI36
NG_009873.1:g.156060G>T
NG_009873.2:g.156653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5986G>T MANE Select	ENSP00000262367.5:p.Ala1996Ser
ENST00000262367.9:c.5986G>T	ENSP00000262367.5:p.Ala1996Ser
ENST00000382070.7:c.5872G>T	ENSP00000371502.3:p.Ala1958Ser
NM_001079846.1:c.5872G>T	NP_001073315.1:p.Ala1958Ser
NM_004380.2:c.5986G>T	NP_004371.2:p.Ala1996Ser
XM_005255124.3:c.5941G>T	XP_005255181.1:p.Ala1981Ser
XM_005255125.3:c.5569G>T	XP_005255182.1:p.Ala1857Ser
XM_006720848.2:c.5725G>T	XP_006720911.1:p.Ala1909Ser
XM_011522380.1:c.5932G>T	XP_011520682.1:p.Ala1978Ser
XM_011522381.1:c.5233G>T	XP_011520683.1:p.Ala1745Ser
XM_005255124.4:c.5941G>T	XP_005255181.1:p.Ala1981Ser
XM_005255125.4:c.5569G>T	XP_005255182.1:p.Ala1857Ser
XM_006720848.3:c.5725G>T	XP_006720911.1:p.Ala1909Ser
XM_011522381.2:c.5233G>T	XP_011520683.1:p.Ala1745Ser
XM_017022944.1:c.5980G>T	XP_016878433.1:p.Ala1994Ser
NM_004380.3:c.5986G>T MANE Select	NP_004371.2:p.Ala1996Ser