Canonical Allele Identifier: CA242554
Gene: SRCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 195888
dbSNP Id: rs200175704

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30723779C>T , CM000678.2:g.30723779C>T GRCh38
NC_000016.9:g.30735100C>T , CM000678.1:g.30735100C>T GRCh37
NC_000016.8:g.30642601C>T NCBI36
NG_032135.1:g.29639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.4355C>T ENSP00000405186.3:p.Ser1452Leu
ENST00000706321.1:c.4355C>T ENSP00000516346.1:p.Ser1452Leu
ENST00000262518.9:c.4355C>T MANE Select ENSP00000262518.4:p.Ser1452Leu
ENST00000262518.8:c.4355C>T ENSP00000262518.4:p.Ser1452Leu
ENST00000380361.7:c.3824C>T ENSP00000369719.3:p.Ser1275Leu
ENST00000395059.6:c.3578C>T ENSP00000378499.3:p.Ser1193Leu
ENST00000483083.3:c.3454C>T
NM_006662.2:c.4355C>T NP_006653.2:p.Ser1452Leu
NM_006662.3:c.4355C>T MANE Select NP_006653.2:p.Ser1452Leu