Canonical Allele Identifier: CA494910695
Gene: SRCAP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30748714G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737393G>C , CM000678.2:g.30737393G>C GRCh38
NC_000016.9:g.30748714G>C , CM000678.1:g.30748714G>C GRCh37
NC_000016.8:g.30656215G>C NCBI36
NG_032135.1:g.43253G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411466.7:c.7353G>C ENSP00000405186.3:p.Pro2451=
ENST00000704023.1:c.1593+40G>C
ENST00000706321.1:c.7353G>C ENSP00000516346.1:p.Pro2451=
ENST00000262518.9:c.7353G>C MANE Select ENSP00000262518.4:p.Pro2451=
ENST00000262518.8:c.7353G>C ENSP00000262518.4:p.Pro2451=
ENST00000380361.7:c.6822G>C ENSP00000369719.3:p.Pro2274=
ENST00000395059.6:c.6576G>C ENSP00000378499.3:p.Pro2192=
NM_006662.2:c.7353G>C NP_006653.2:p.Pro2451=
NM_006662.3:c.7353G>C MANE Select NP_006653.2:p.Pro2451=