Canonical Allele Identifier: CA395632586

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748694C>G (hg19) ; chr16:g.30737373C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737373C>G , CM000678.2:g.30737373C>G	GRCh38
NC_000016.9:g.30748694C>G , CM000678.1:g.30748694C>G	GRCh37
NC_000016.8:g.30656195C>G	NCBI36
NG_032135.1:g.43233C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7333C>G	ENSP00000405186.3:p.Pro2445Ala
ENST00000704023.1:c.1593+20C>G
ENST00000706321.1:c.7333C>G	ENSP00000516346.1:p.Pro2445Ala
ENST00000262518.9:c.7333C>G MANE Select	ENSP00000262518.4:p.Pro2445Ala
ENST00000262518.8:c.7333C>G	ENSP00000262518.4:p.Pro2445Ala
ENST00000380361.7:c.6802C>G	ENSP00000369719.3:p.Pro2268Ala
ENST00000395059.6:c.6556C>G	ENSP00000378499.3:p.Pro2186Ala
NM_006662.2:c.7333C>G	NP_006653.2:p.Pro2445Ala
NM_006662.3:c.7333C>G MANE Select	NP_006653.2:p.Pro2445Ala