Canonical Allele Identifier: CA395632195

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748496C>G (hg19) ; chr16:g.30737175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737175C>G , CM000678.2:g.30737175C>G	GRCh38
NC_000016.9:g.30748496C>G , CM000678.1:g.30748496C>G	GRCh37
NC_000016.8:g.30655997C>G	NCBI36
NG_032135.1:g.43035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7135C>G	ENSP00000405186.3:p.His2379Asp
ENST00000704023.1:c.1415C>G
ENST00000706321.1:c.7135C>G	ENSP00000516346.1:p.His2379Asp
ENST00000262518.9:c.7135C>G MANE Select	ENSP00000262518.4:p.His2379Asp
ENST00000262518.8:c.7135C>G	ENSP00000262518.4:p.His2379Asp
ENST00000380361.7:c.6604C>G	ENSP00000369719.3:p.His2202Asp
ENST00000395059.6:c.6358C>G	ENSP00000378499.3:p.His2120Asp
NM_006662.2:c.7135C>G	NP_006653.2:p.His2379Asp
NM_006662.3:c.7135C>G MANE Select	NP_006653.2:p.His2379Asp