Canonical Allele Identifier: CA8012420

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 318893
• ClinVar RCV Id: RCV000915066 ; RCV002487406 ; RCV003972358
• dbSNP Id: rs142242633
• ExAC: 16:30748482 C / A
• gnomAD v2: 16-30748482-C-A
• gnomAD v3: 16-30737161-C-A
• gnomAD v4: 16-30737161-C-A
• MyVariant Identifiers: chr16:g.30748482C>A (hg19) ; chr16:g.30737161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737161C>A , CM000678.2:g.30737161C>A	GRCh38
NC_000016.9:g.30748482C>A , CM000678.1:g.30748482C>A	GRCh37
NC_000016.8:g.30655983C>A	NCBI36
NG_032135.1:g.43021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7121C>A	ENSP00000405186.3:p.Thr2374Asn
ENST00000704023.1:c.1401C>A
ENST00000706321.1:c.7121C>A	ENSP00000516346.1:p.Thr2374Asn
ENST00000262518.9:c.7121C>A MANE Select	ENSP00000262518.4:p.Thr2374Asn
ENST00000262518.8:c.7121C>A	ENSP00000262518.4:p.Thr2374Asn
ENST00000380361.7:c.6590C>A	ENSP00000369719.3:p.Thr2197Asn
ENST00000395059.6:c.6344C>A	ENSP00000378499.3:p.Thr2115Asn
NM_006662.2:c.7121C>A	NP_006653.2:p.Thr2374Asn
NM_006662.3:c.7121C>A MANE Select	NP_006653.2:p.Thr2374Asn