Canonical Allele Identifier: CA394564755

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336791
• MyVariant Identifiers: chr16:g.3789615T>A (hg19) ; chr16:g.3739614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739614T>A , CM000678.2:g.3739614T>A	GRCh38
NC_000016.9:g.3789615T>A , CM000678.1:g.3789615T>A	GRCh37
NC_000016.8:g.3729616T>A	NCBI36
NG_009873.1:g.145507A>T
NG_009873.2:g.146100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4244A>T MANE Select	ENSP00000262367.5:p.Gln1415Leu
ENST00000262367.9:c.4244A>T	ENSP00000262367.5:p.Gln1415Leu
ENST00000382070.7:c.4130A>T	ENSP00000371502.3:p.Gln1377Leu
ENST00000570939.2:c.2879A>T	ENSP00000461002.2:p.Gln960Leu
ENST00000573517.6:c.550A>T
ENST00000574740.1:n.215+785A>T
ENST00000576720.1:n.3181A>T
NM_001079846.1:c.4130A>T	NP_001073315.1:p.Gln1377Leu
NM_004380.2:c.4244A>T	NP_004371.2:p.Gln1415Leu
XM_005255124.3:c.4199A>T	XP_005255181.1:p.Gln1400Leu
XM_005255125.3:c.3827A>T	XP_005255182.1:p.Gln1276Leu
XM_006720848.2:c.4133+785A>T	XP_006720911.1:n.4133+785A>T
XM_011522380.1:c.4190A>T	XP_011520682.1:p.Gln1397Leu
XM_011522381.1:c.3491A>T	XP_011520683.1:p.Gln1164Leu
XM_005255124.4:c.4199A>T	XP_005255181.1:p.Gln1400Leu
XM_005255125.4:c.3827A>T	XP_005255182.1:p.Gln1276Leu
XM_006720848.3:c.4133+785A>T	XP_006720911.1:n.4133+785A>T
XM_011522381.2:c.3491A>T	XP_011520683.1:p.Gln1164Leu
XM_017022944.1:c.4238A>T	XP_016878433.1:p.Gln1413Leu
NM_004380.3:c.4244A>T MANE Select	NP_004371.2:p.Gln1415Leu