Canonical Allele Identifier: CA1702876
Community Standard Title: NM_005791.3(MPHOSPH10):c.719T>C (p.Ile240Thr)
Gene: MPHOSPH10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71133527T>C , CM000664.2:g.71133527T>C GRCh38
NC_000002.11:g.71360657T>C , CM000664.1:g.71360657T>C GRCh37
NC_000002.10:g.71214165T>C NCBI36
NG_008977.1:g.1738A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005791.3:c.719T>C MANE Select NP_005782.1:p.Ile240Thr
ENST00000244230.7:c.719T>C MANE Select ENSP00000244230.2:p.Ile240Thr
NM_005791.2:c.719T>C NP_005782.1:p.Ile240Thr
ENST00000244230.6:c.719T>C ENSP00000244230.2:p.Ile240Thr
ENST00000468427.2:c.299T>C ENSP00000511582.1:p.Ile100Thr
ENST00000498451.2:c.719T>C ENSP00000475545.1:p.Ile240Thr
ENST00000498451.3:c.719T>C ENSP00000475545.1:p.Ile240Thr
ENST00000694907.2:c.*352T>C ENSP00000511583.1:n.*352T>C
ENST00000695484.2:c.719T>C ENSP00000511956.1:p.Ile240Thr