Canonical Allele Identifier: CA8012713

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 318905
• ClinVar RCV Id: RCV000334801 ; RCV001850689 ; RCV002521008
• dbSNP Id: rs146421389
• ExAC: 16:30749861 G / A
• gnomAD v2: 16-30749861-G-A
• gnomAD v3: 16-30738540-G-A
• gnomAD v4: 16-30738540-G-A
• MyVariant Identifiers: chr16:g.30749861G>A (hg19) ; chr16:g.30738540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30738540G>A , CM000678.2:g.30738540G>A	GRCh38
NC_000016.9:g.30749861G>A , CM000678.1:g.30749861G>A	GRCh37
NC_000016.8:g.30657362G>A	NCBI36
NG_032135.1:g.44400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.8500G>A	ENSP00000405186.3:p.Gly2834Arg
ENST00000704023.1:c.1758+585G>A
ENST00000706321.1:c.8500G>A	ENSP00000516346.1:p.Gly2834Arg
ENST00000262518.9:c.8500G>A MANE Select	ENSP00000262518.4:p.Gly2834Arg
ENST00000262518.8:c.8500G>A	ENSP00000262518.4:p.Gly2834Arg
ENST00000380361.7:c.7969G>A	ENSP00000369719.3:p.Gly2657Arg
ENST00000395059.6:c.7723G>A	ENSP00000378499.3:p.Gly2575Arg
NM_006662.2:c.8500G>A	NP_006653.2:p.Gly2834Arg
NM_006662.3:c.8500G>A MANE Select	NP_006653.2:p.Gly2834Arg