Canonical Allele Identifier: CA394565194

Gene: CREBBP

Linked Data

• dbSNP Id: rs121434626
• MyVariant Identifiers: chr16:g.3790400C>A (hg19) ; chr16:g.3740399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740399C>A , CM000678.2:g.3740399C>A	GRCh38
NC_000016.9:g.3790400C>A , CM000678.1:g.3790400C>A	GRCh37
NC_000016.8:g.3730401C>A	NCBI36
NG_009873.1:g.144722G>T
NG_009873.2:g.145315G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4133G>T MANE Select	ENSP00000262367.5:p.Arg1378Leu
ENST00000262367.9:c.4133G>T	ENSP00000262367.5:p.Arg1378Leu
ENST00000382070.7:c.4019G>T	ENSP00000371502.3:p.Arg1340Leu
ENST00000570939.2:c.2768G>T	ENSP00000461002.2:p.Arg923Leu
ENST00000573517.6:c.439G>T
ENST00000574740.1:n.215G>T
ENST00000576720.1:n.3070G>T
NM_001079846.1:c.4019G>T	NP_001073315.1:p.Arg1340Leu
NM_004380.2:c.4133G>T	NP_004371.2:p.Arg1378Leu
XM_005255124.3:c.4088G>T	XP_005255181.1:p.Arg1363Leu
XM_005255125.3:c.3716G>T	XP_005255182.1:p.Arg1239Leu
XM_006720848.2:c.4133G>T	XP_006720911.1:p.Arg1378Leu
XM_011522380.1:c.4079G>T	XP_011520682.1:p.Arg1360Leu
XM_011522381.1:c.3380G>T	XP_011520683.1:p.Arg1127Leu
XM_005255124.4:c.4088G>T	XP_005255181.1:p.Arg1363Leu
XM_005255125.4:c.3716G>T	XP_005255182.1:p.Arg1239Leu
XM_006720848.3:c.4133G>T	XP_006720911.1:p.Arg1378Leu
XM_011522381.2:c.3380G>T	XP_011520683.1:p.Arg1127Leu
XM_017022944.1:c.4127G>T	XP_016878433.1:p.Arg1376Leu
NM_004380.3:c.4133G>T MANE Select	NP_004371.2:p.Arg1378Leu