Canonical Allele Identifier: CA394554042

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778891T>G (hg19) ; chr16:g.3728890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728890T>G , CM000678.2:g.3728890T>G	GRCh38
NC_000016.9:g.3778891T>G , CM000678.1:g.3778891T>G	GRCh37
NC_000016.8:g.3718892T>G	NCBI36
NG_009873.1:g.156231A>C
NG_009873.2:g.156824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6157A>C MANE Select	ENSP00000262367.5:p.Met2053Leu
ENST00000262367.9:c.6157A>C	ENSP00000262367.5:p.Met2053Leu
ENST00000382070.7:c.6043A>C	ENSP00000371502.3:p.Met2015Leu
NM_001079846.1:c.6043A>C	NP_001073315.1:p.Met2015Leu
NM_004380.2:c.6157A>C	NP_004371.2:p.Met2053Leu
XM_005255124.3:c.6112A>C	XP_005255181.1:p.Met2038Leu
XM_005255125.3:c.5740A>C	XP_005255182.1:p.Met1914Leu
XM_006720848.2:c.5896A>C	XP_006720911.1:p.Met1966Leu
XM_011522380.1:c.6103A>C	XP_011520682.1:p.Met2035Leu
XM_011522381.1:c.5404A>C	XP_011520683.1:p.Met1802Leu
XM_005255124.4:c.6112A>C	XP_005255181.1:p.Met2038Leu
XM_005255125.4:c.5740A>C	XP_005255182.1:p.Met1914Leu
XM_006720848.3:c.5896A>C	XP_006720911.1:p.Met1966Leu
XM_011522381.2:c.5404A>C	XP_011520683.1:p.Met1802Leu
XM_017022944.1:c.6151A>C	XP_016878433.1:p.Met2051Leu
NM_004380.3:c.6157A>C MANE Select	NP_004371.2:p.Met2053Leu