Canonical Allele Identifier: CA395632423

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748608C>T (hg19) ; chr16:g.30737287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737287C>T , CM000678.2:g.30737287C>T	GRCh38
NC_000016.9:g.30748608C>T , CM000678.1:g.30748608C>T	GRCh37
NC_000016.8:g.30656109C>T	NCBI36
NG_032135.1:g.43147C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7247C>T	ENSP00000405186.3:p.Ser2416Phe
ENST00000704023.1:c.1527C>T
ENST00000706321.1:c.7247C>T	ENSP00000516346.1:p.Ser2416Phe
ENST00000262518.9:c.7247C>T MANE Select	ENSP00000262518.4:p.Ser2416Phe
ENST00000262518.8:c.7247C>T	ENSP00000262518.4:p.Ser2416Phe
ENST00000380361.7:c.6716C>T	ENSP00000369719.3:p.Ser2239Phe
ENST00000395059.6:c.6470C>T	ENSP00000378499.3:p.Ser2157Phe
NM_006662.2:c.7247C>T	NP_006653.2:p.Ser2416Phe
NM_006662.3:c.7247C>T MANE Select	NP_006653.2:p.Ser2416Phe