Canonical Allele Identifier: CA395632616

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748710C>T (hg19) ; chr16:g.30737389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737389C>T , CM000678.2:g.30737389C>T	GRCh38
NC_000016.9:g.30748710C>T , CM000678.1:g.30748710C>T	GRCh37
NC_000016.8:g.30656211C>T	NCBI36
NG_032135.1:g.43249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7349C>T	ENSP00000405186.3:p.Ala2450Val
ENST00000704023.1:c.1593+36C>T
ENST00000706321.1:c.7349C>T	ENSP00000516346.1:p.Ala2450Val
ENST00000262518.9:c.7349C>T MANE Select	ENSP00000262518.4:p.Ala2450Val
ENST00000262518.8:c.7349C>T	ENSP00000262518.4:p.Ala2450Val
ENST00000380361.7:c.6818C>T	ENSP00000369719.3:p.Ala2273Val
ENST00000395059.6:c.6572C>T	ENSP00000378499.3:p.Ala2191Val
NM_006662.2:c.7349C>T	NP_006653.2:p.Ala2450Val
NM_006662.3:c.7349C>T MANE Select	NP_006653.2:p.Ala2450Val