Canonical Allele Identifier: CA395632426

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748611C>A (hg19) ; chr16:g.30737290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737290C>A , CM000678.2:g.30737290C>A	GRCh38
NC_000016.9:g.30748611C>A , CM000678.1:g.30748611C>A	GRCh37
NC_000016.8:g.30656112C>A	NCBI36
NG_032135.1:g.43150C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7250C>A	ENSP00000405186.3:p.Ala2417Asp
ENST00000704023.1:c.1530C>A
ENST00000706321.1:c.7250C>A	ENSP00000516346.1:p.Ala2417Asp
ENST00000262518.9:c.7250C>A MANE Select	ENSP00000262518.4:p.Ala2417Asp
ENST00000262518.8:c.7250C>A	ENSP00000262518.4:p.Ala2417Asp
ENST00000380361.7:c.6719C>A	ENSP00000369719.3:p.Ala2240Asp
ENST00000395059.6:c.6473C>A	ENSP00000378499.3:p.Ala2158Asp
NM_006662.2:c.7250C>A	NP_006653.2:p.Ala2417Asp
NM_006662.3:c.7250C>A MANE Select	NP_006653.2:p.Ala2417Asp