Canonical Allele Identifier: CA8011452

Gene: SRCAP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30721189T>C , CM000678.2:g.30721189T>C	GRCh38
NC_000016.9:g.30732510T>C , CM000678.1:g.30732510T>C	GRCh37
NC_000016.8:g.30640011T>C	NCBI36
NG_032135.1:g.27049T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006662.3:c.3254T>C MANE Select	NP_006653.2:p.Val1085Ala
ENST00000262518.9:c.3254T>C MANE Select	ENSP00000262518.4:p.Val1085Ala
NM_006662.2:c.3254T>C	NP_006653.2:p.Val1085Ala
ENST00000262518.8:c.3254T>C	ENSP00000262518.4:p.Val1085Ala
ENST00000380361.7:c.3196+211T>C	ENSP00000369719.3:n.3196+211T>C
ENST00000395059.6:c.2663T>C	ENSP00000378499.3:p.Val888Ala
ENST00000411466.7:c.3254T>C	ENSP00000405186.3:p.Val1085Ala
ENST00000483083.3:c.2353T>C
ENST00000706321.1:c.3254T>C	ENSP00000516346.1:p.Val1085Ala