Canonical Allele Identifier: CA8012465
Gene: SRCAP HGNC NCBI

Linked Data

dbSNP Id: rs774201662
ExAC: 16:30748712 C / T
gnomAD v2: 16-30748712-C-T
gnomAD v3: 16-30737391-C-T
gnomAD v4: 16-30737391-C-T
MyVariant Identifiers: chr16:g.30748712C>T (hg19) chr16:g.30737391C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30737391C>T , CM000678.2:g.30737391C>T GRCh38
NC_000016.9:g.30748712C>T , CM000678.1:g.30748712C>T GRCh37
NC_000016.8:g.30656213C>T NCBI36
NG_032135.1:g.43251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411466.7:c.7351C>T ENSP00000405186.3:p.Pro2451Ser
ENST00000704023.1:c.1593+38C>T
ENST00000706321.1:c.7351C>T ENSP00000516346.1:p.Pro2451Ser
ENST00000262518.9:c.7351C>T MANE Select ENSP00000262518.4:p.Pro2451Ser
ENST00000262518.8:c.7351C>T ENSP00000262518.4:p.Pro2451Ser
ENST00000380361.7:c.6820C>T ENSP00000369719.3:p.Pro2274Ser
ENST00000395059.6:c.6574C>T ENSP00000378499.3:p.Pro2192Ser
NM_006662.2:c.7351C>T NP_006653.2:p.Pro2451Ser
NM_006662.3:c.7351C>T MANE Select NP_006653.2:p.Pro2451Ser
Search 100 bp 5'
Search 100 bp 3'