Canonical Allele Identifier: CA272646

Gene: SRCAP

Linked Data

• ClinVar Variation Id: 160038
• ClinVar RCV Id: RCV000147668
• dbSNP Id: rs587784444
• MyVariant Identifiers: chr16:g.30749354C>T (hg19) ; chr16:g.30738033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30738033C>T , CM000678.2:g.30738033C>T	GRCh38
NC_000016.9:g.30749354C>T , CM000678.1:g.30749354C>T	GRCh37
NC_000016.8:g.30656855C>T	NCBI36
NG_032135.1:g.43893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7993C>T	ENSP00000405186.3:p.Gln2665Ter
ENST00000704023.1:c.1758+78C>T
ENST00000706321.1:c.7993C>T	ENSP00000516346.1:p.Gln2665Ter
ENST00000262518.9:c.7993C>T MANE Select	ENSP00000262518.4:p.Gln2665Ter
ENST00000262518.8:c.7993C>T	ENSP00000262518.4:p.Gln2665Ter
ENST00000380361.7:c.7462C>T	ENSP00000369719.3:p.Gln2488Ter
ENST00000395059.6:c.7216C>T	ENSP00000378499.3:p.Gln2406Ter
NM_006662.2:c.7993C>T	NP_006653.2:p.Gln2665Ter
NM_006662.3:c.7993C>T MANE Select	NP_006653.2:p.Gln2665Ter