Canonical Allele Identifier: CA395632611

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748709G>A (hg19) ; chr16:g.30737388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737388G>A , CM000678.2:g.30737388G>A	GRCh38
NC_000016.9:g.30748709G>A , CM000678.1:g.30748709G>A	GRCh37
NC_000016.8:g.30656210G>A	NCBI36
NG_032135.1:g.43248G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7348G>A	ENSP00000405186.3:p.Ala2450Thr
ENST00000704023.1:c.1593+35G>A
ENST00000706321.1:c.7348G>A	ENSP00000516346.1:p.Ala2450Thr
ENST00000262518.9:c.7348G>A MANE Select	ENSP00000262518.4:p.Ala2450Thr
ENST00000262518.8:c.7348G>A	ENSP00000262518.4:p.Ala2450Thr
ENST00000380361.7:c.6817G>A	ENSP00000369719.3:p.Ala2273Thr
ENST00000395059.6:c.6571G>A	ENSP00000378499.3:p.Ala2191Thr
NM_006662.2:c.7348G>A	NP_006653.2:p.Ala2450Thr
NM_006662.3:c.7348G>A MANE Select	NP_006653.2:p.Ala2450Thr