Canonical Allele Identifier: CA280523593

Gene: SRCAP

Linked Data

• dbSNP Id: rs200642861
• MyVariant Identifiers: chr16:g.30748606A>G (hg19) ; chr16:g.30737285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737285A>G , CM000678.2:g.30737285A>G	GRCh38
NC_000016.9:g.30748606A>G , CM000678.1:g.30748606A>G	GRCh37
NC_000016.8:g.30656107A>G	NCBI36
NG_032135.1:g.43145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7245A>G	ENSP00000405186.3:p.Ile2415Met
ENST00000704023.1:c.1525A>G
ENST00000706321.1:c.7245A>G	ENSP00000516346.1:p.Ile2415Met
ENST00000262518.9:c.7245A>G MANE Select	ENSP00000262518.4:p.Ile2415Met
ENST00000262518.8:c.7245A>G	ENSP00000262518.4:p.Ile2415Met
ENST00000380361.7:c.6714A>G	ENSP00000369719.3:p.Ile2238Met
ENST00000395059.6:c.6468A>G	ENSP00000378499.3:p.Ile2156Met
NM_006662.2:c.7245A>G	NP_006653.2:p.Ile2415Met
NM_006662.3:c.7245A>G MANE Select	NP_006653.2:p.Ile2415Met