Canonical Allele Identifier: CA395632601

Gene: SRCAP

Linked Data

• gnomAD v4: 16-30737382-G-C
• MyVariant Identifiers: chr16:g.30748703G>C (hg19) ; chr16:g.30737382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30737382G>C , CM000678.2:g.30737382G>C	GRCh38
NC_000016.9:g.30748703G>C , CM000678.1:g.30748703G>C	GRCh37
NC_000016.8:g.30656204G>C	NCBI36
NG_032135.1:g.43242G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411466.7:c.7342G>C	ENSP00000405186.3:p.Ala2448Pro
ENST00000704023.1:c.1593+29G>C
ENST00000706321.1:c.7342G>C	ENSP00000516346.1:p.Ala2448Pro
ENST00000262518.9:c.7342G>C MANE Select	ENSP00000262518.4:p.Ala2448Pro
ENST00000262518.8:c.7342G>C	ENSP00000262518.4:p.Ala2448Pro
ENST00000380361.7:c.6811G>C	ENSP00000369719.3:p.Ala2271Pro
ENST00000395059.6:c.6565G>C	ENSP00000378499.3:p.Ala2189Pro
NM_006662.2:c.7342G>C	NP_006653.2:p.Ala2448Pro
NM_006662.3:c.7342G>C MANE Select	NP_006653.2:p.Ala2448Pro