Canonical Allele Identifier: CA394564681

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336507
• MyVariant Identifiers: chr16:g.3789579C>G (hg19) ; chr16:g.3739578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739578C>G , CM000678.2:g.3739578C>G	GRCh38
NC_000016.9:g.3789579C>G , CM000678.1:g.3789579C>G	GRCh37
NC_000016.8:g.3729580C>G	NCBI36
NG_009873.1:g.145543G>C
NG_009873.2:g.146136G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4280G>C MANE Select	ENSP00000262367.5:p.Arg1427Thr
ENST00000262367.9:c.4280G>C	ENSP00000262367.5:p.Arg1427Thr
ENST00000382070.7:c.4166G>C	ENSP00000371502.3:p.Arg1389Thr
ENST00000570939.2:c.2915G>C	ENSP00000461002.2:p.Arg972Thr
ENST00000573517.6:c.586G>C
ENST00000574740.1:n.215+821G>C
ENST00000576720.1:n.3217G>C
NM_001079846.1:c.4166G>C	NP_001073315.1:p.Arg1389Thr
NM_004380.2:c.4280G>C	NP_004371.2:p.Arg1427Thr
XM_005255124.3:c.4235G>C	XP_005255181.1:p.Arg1412Thr
XM_005255125.3:c.3863G>C	XP_005255182.1:p.Arg1288Thr
XM_006720848.2:c.4133+821G>C	XP_006720911.1:n.4133+821G>C
XM_011522380.1:c.4226G>C	XP_011520682.1:p.Arg1409Thr
XM_011522381.1:c.3527G>C	XP_011520683.1:p.Arg1176Thr
XM_005255124.4:c.4235G>C	XP_005255181.1:p.Arg1412Thr
XM_005255125.4:c.3863G>C	XP_005255182.1:p.Arg1288Thr
XM_006720848.3:c.4133+821G>C	XP_006720911.1:n.4133+821G>C
XM_011522381.2:c.3527G>C	XP_011520683.1:p.Arg1176Thr
XM_017022944.1:c.4274G>C	XP_016878433.1:p.Arg1425Thr
NM_004380.3:c.4280G>C MANE Select	NP_004371.2:p.Arg1427Thr