Canonical Allele Identifier: CA395632201

Gene: SRCAP

Linked Data

• dbSNP Id: rs776770794
• gnomAD v3: 16-30737178-C-T
• gnomAD v4: 16-30737178-C-T
• COSMIC: COSM290539
• MyVariant Identifiers: chr16:g.30748499C>T (hg19) ; chr16:g.30737178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737178C>T , CM000678.2:g.30737178C>T	GRCh38
NC_000016.9:g.30748499C>T , CM000678.1:g.30748499C>T	GRCh37
NC_000016.8:g.30656000C>T	NCBI36
NG_032135.1:g.43038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7138C>T	ENSP00000405186.3:p.Arg2380Trp
ENST00000704023.1:c.1418C>T
ENST00000706321.1:c.7138C>T	ENSP00000516346.1:p.Arg2380Trp
ENST00000262518.9:c.7138C>T MANE Select	ENSP00000262518.4:p.Arg2380Trp
ENST00000262518.8:c.7138C>T	ENSP00000262518.4:p.Arg2380Trp
ENST00000380361.7:c.6607C>T	ENSP00000369719.3:p.Arg2203Trp
ENST00000395059.6:c.6361C>T	ENSP00000378499.3:p.Arg2121Trp
NM_006662.2:c.7138C>T	NP_006653.2:p.Arg2380Trp
NM_006662.3:c.7138C>T MANE Select	NP_006653.2:p.Arg2380Trp