Canonical Allele Identifier: CA5458914

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 506930
• ClinVar RCV Id: RCV000607289 ; RCV002529397
• dbSNP Id: rs372811219
• ExAC: 10:30602647 T / C
• gnomAD v2: 10-30602647-T-C
• gnomAD v3: 10-30313718-T-C
• gnomAD v4: 10-30313718-T-C
• MyVariant Identifiers: chr10:g.30602647T>C (hg19) ; chr10:g.30313718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313718T>C , CM000672.2:g.30313718T>C	GRCh38
NC_000010.10:g.30602647T>C , CM000672.1:g.30602647T>C	GRCh37
NC_000010.9:g.30642653T>C	NCBI36
NG_028096.1:g.40621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1640A>G MANE Select	ENSP00000263063.3:p.Asn547Ser
ENST00000263063.8:c.1640A>G	ENSP00000263063.3:p.Asn547Ser
ENST00000488290.5:n.3395A>G
NM_018109.3:c.1640A>G	NP_060579.3:p.Asn547Ser
NM_018109.4:c.1640A>G MANE Select	NP_060579.3:p.Asn547Ser