Canonical Allele Identifier: CA394550756

Gene: CREBBP

Linked Data

• dbSNP Id: rs587783475
• MyVariant Identifiers: chr16:g.3820660G>T (hg19) ; chr16:g.3770659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770659G>T , CM000678.2:g.3770659G>T	GRCh38
NC_000016.9:g.3820660G>T , CM000678.1:g.3820660G>T	GRCh37
NC_000016.8:g.3760661G>T	NCBI36
NG_009873.1:g.114462C>A
NG_009873.2:g.115055C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2791C>A MANE Select	ENSP00000262367.5:p.Gln931Lys
ENST00000262367.9:c.2791C>A	ENSP00000262367.5:p.Gln931Lys
ENST00000382070.7:c.2677C>A	ENSP00000371502.3:p.Gln893Lys
ENST00000570939.2:c.1396C>A	ENSP00000461002.2:p.Gln466Lys
ENST00000573672.1:n.45C>A
NM_001079846.1:c.2677C>A	NP_001073315.1:p.Gln893Lys
NM_004380.2:c.2791C>A	NP_004371.2:p.Gln931Lys
XM_005255124.3:c.2746C>A	XP_005255181.1:p.Gln916Lys
XM_005255125.3:c.2464-1306C>A	XP_005255182.1:n.2464-1306C>A
XM_006720848.2:c.2791C>A	XP_006720911.1:p.Gln931Lys
XM_011522380.1:c.2737C>A	XP_011520682.1:p.Gln913Lys
XM_011522381.1:c.2038C>A	XP_011520683.1:p.Gln680Lys
XM_011522382.1:c.2791C>A	XP_011520684.1:p.Gln931Lys
XM_005255124.4:c.2746C>A	XP_005255181.1:p.Gln916Lys
XM_005255125.4:c.2464-1306C>A	XP_005255182.1:n.2464-1306C>A
XM_006720848.3:c.2791C>A	XP_006720911.1:p.Gln931Lys
XM_011522381.2:c.2038C>A	XP_011520683.1:p.Gln680Lys
XM_011522382.3:c.2791C>A	XP_011520684.1:p.Gln931Lys
XM_017022944.1:c.2785C>A	XP_016878433.1:p.Gln929Lys
NM_004380.3:c.2791C>A MANE Select	NP_004371.2:p.Gln931Lys