Canonical Allele Identifier: CA394554192

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306087
• MyVariant Identifiers: chr16:g.3778935G>A (hg19) ; chr16:g.3728934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728934G>A , CM000678.2:g.3728934G>A	GRCh38
NC_000016.9:g.3778935G>A , CM000678.1:g.3778935G>A	GRCh37
NC_000016.8:g.3718936G>A	NCBI36
NG_009873.1:g.156187C>T
NG_009873.2:g.156780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6113C>T MANE Select	ENSP00000262367.5:p.Pro2038Leu
ENST00000262367.9:c.6113C>T	ENSP00000262367.5:p.Pro2038Leu
ENST00000382070.7:c.5999C>T	ENSP00000371502.3:p.Pro2000Leu
NM_001079846.1:c.5999C>T	NP_001073315.1:p.Pro2000Leu
NM_004380.2:c.6113C>T	NP_004371.2:p.Pro2038Leu
XM_005255124.3:c.6068C>T	XP_005255181.1:p.Pro2023Leu
XM_005255125.3:c.5696C>T	XP_005255182.1:p.Pro1899Leu
XM_006720848.2:c.5852C>T	XP_006720911.1:p.Pro1951Leu
XM_011522380.1:c.6059C>T	XP_011520682.1:p.Pro2020Leu
XM_011522381.1:c.5360C>T	XP_011520683.1:p.Pro1787Leu
XM_005255124.4:c.6068C>T	XP_005255181.1:p.Pro2023Leu
XM_005255125.4:c.5696C>T	XP_005255182.1:p.Pro1899Leu
XM_006720848.3:c.5852C>T	XP_006720911.1:p.Pro1951Leu
XM_011522381.2:c.5360C>T	XP_011520683.1:p.Pro1787Leu
XM_017022944.1:c.6107C>T	XP_016878433.1:p.Pro2036Leu
NM_004380.3:c.6113C>T MANE Select	NP_004371.2:p.Pro2038Leu