Canonical Allele Identifier: CA2573152239

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 1383995
• ClinVar RCV Id: RCV001895660
• dbSNP Id: rs2151300055

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737283dup , CM000678.2:g.30737283dup	GRCh38
NC_000016.9:g.30748604dup , CM000678.1:g.30748604dup	GRCh37
NC_000016.8:g.30656105dup	NCBI36
NG_032135.1:g.43143dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7243dup	ENSP00000405186.3:p.Ile2415AsnfsTer28
ENST00000704023.1:c.1523dup
ENST00000706321.1:c.7243dup	ENSP00000516346.1:p.Ile2415AsnfsTer28
ENST00000262518.9:c.7243dup MANE Select	ENSP00000262518.4:p.Ile2415AsnfsTer28
ENST00000262518.8:c.7243dup	ENSP00000262518.4:p.Ile2415AsnfsTer28
ENST00000380361.7:c.6712dup	ENSP00000369719.3:p.Ile2238AsnfsTer28
ENST00000395059.6:c.6466dup	ENSP00000378499.3:p.Ile2156AsnfsTer28
NM_006662.2:c.7243dup	NP_006653.2:p.Ile2415AsnfsTer28
NM_006662.3:c.7243dup MANE Select	NP_006653.2:p.Ile2415AsnfsTer28