Canonical Allele Identifier: CA8011461

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30721227C>T , CM000678.2:g.30721227C>T	GRCh38
NC_000016.9:g.30732548C>T , CM000678.1:g.30732548C>T	GRCh37
NC_000016.8:g.30640049C>T	NCBI36
NG_032135.1:g.27087C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.3292C>T MANE Select	NP_006653.2:p.Arg1098Trp
ENST00000262518.9:c.3292C>T MANE Select	ENSP00000262518.4:p.Arg1098Trp
NM_006662.2:c.3292C>T	NP_006653.2:p.Arg1098Trp
ENST00000262518.8:c.3292C>T	ENSP00000262518.4:p.Arg1098Trp
ENST00000380361.7:c.3196+249C>T	ENSP00000369719.3:n.3196+249C>T
ENST00000395059.6:c.2701C>T	ENSP00000378499.3:p.Arg901Trp
ENST00000411466.7:c.3292C>T	ENSP00000405186.3:p.Arg1098Trp
ENST00000483083.3:c.2391C>T
ENST00000706321.1:c.3292C>T	ENSP00000516346.1:p.Arg1098Trp