Canonical Allele Identifier: CA394556598

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311187
• MyVariant Identifiers: chr16:g.3779656T>A (hg19) ; chr16:g.3729655T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729655T>A , CM000678.2:g.3729655T>A	GRCh38
NC_000016.9:g.3779656T>A , CM000678.1:g.3779656T>A	GRCh37
NC_000016.8:g.3719657T>A	NCBI36
NG_009873.1:g.155466A>T
NG_009873.2:g.156059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5392A>T MANE Select	ENSP00000262367.5:p.Met1798Leu
ENST00000262367.9:c.5392A>T	ENSP00000262367.5:p.Met1798Leu
ENST00000382070.7:c.5278A>T	ENSP00000371502.3:p.Met1760Leu
NM_001079846.1:c.5278A>T	NP_001073315.1:p.Met1760Leu
NM_004380.2:c.5392A>T	NP_004371.2:p.Met1798Leu
XM_005255124.3:c.5347A>T	XP_005255181.1:p.Met1783Leu
XM_005255125.3:c.4975A>T	XP_005255182.1:p.Met1659Leu
XM_006720848.2:c.5131A>T	XP_006720911.1:p.Met1711Leu
XM_011522380.1:c.5338A>T	XP_011520682.1:p.Met1780Leu
XM_011522381.1:c.4639A>T	XP_011520683.1:p.Met1547Leu
XM_005255124.4:c.5347A>T	XP_005255181.1:p.Met1783Leu
XM_005255125.4:c.4975A>T	XP_005255182.1:p.Met1659Leu
XM_006720848.3:c.5131A>T	XP_006720911.1:p.Met1711Leu
XM_011522381.2:c.4639A>T	XP_011520683.1:p.Met1547Leu
XM_017022944.1:c.5386A>T	XP_016878433.1:p.Met1796Leu
NM_004380.3:c.5392A>T MANE Select	NP_004371.2:p.Met1798Leu