Canonical Allele Identifier: CA395635418

Gene: SRCAP

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.7993C>G MANE Select	NP_006653.2:p.Gln2665Glu
ENST00000262518.9:c.7993C>G MANE Select	ENSP00000262518.4:p.Gln2665Glu
NM_006662.2:c.7993C>G	NP_006653.2:p.Gln2665Glu
ENST00000262518.8:c.7993C>G	ENSP00000262518.4:p.Gln2665Glu
ENST00000380361.7:c.7462C>G	ENSP00000369719.3:p.Gln2488Glu
ENST00000395059.6:c.7216C>G	ENSP00000378499.3:p.Gln2406Glu
ENST00000411466.7:c.7993C>G	ENSP00000405186.3:p.Gln2665Glu
ENST00000704023.1:c.1758+78C>G
ENST00000706321.1:c.7993C>G	ENSP00000516346.1:p.Gln2665Glu