Canonical Allele Identifier: CA395632424

Gene: SRCAP

Linked Data

• MyVariant Identifiers: chr16:g.30748610G>C (hg19) ; chr16:g.30737289G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737289G>C , CM000678.2:g.30737289G>C	GRCh38
NC_000016.9:g.30748610G>C , CM000678.1:g.30748610G>C	GRCh37
NC_000016.8:g.30656111G>C	NCBI36
NG_032135.1:g.43149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411466.7:c.7249G>C	ENSP00000405186.3:p.Ala2417Pro
ENST00000704023.1:c.1529G>C
ENST00000706321.1:c.7249G>C	ENSP00000516346.1:p.Ala2417Pro
ENST00000262518.9:c.7249G>C MANE Select	ENSP00000262518.4:p.Ala2417Pro
ENST00000262518.8:c.7249G>C	ENSP00000262518.4:p.Ala2417Pro
ENST00000380361.7:c.6718G>C	ENSP00000369719.3:p.Ala2240Pro
ENST00000395059.6:c.6472G>C	ENSP00000378499.3:p.Ala2158Pro
NM_006662.2:c.7249G>C	NP_006653.2:p.Ala2417Pro
NM_006662.3:c.7249G>C MANE Select	NP_006653.2:p.Ala2417Pro