Canonical Allele Identifier: CA9232928

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12865109C>T , CM000681.2:g.12865109C>T GRCh38
NC_000019.9:g.12975923C>T , CM000681.1:g.12975923C>T GRCh37
NC_000019.8:g.12836923C>T NCBI36
NG_054729.1:g.36179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251472.9:c.1569C>T (MAST1) MANE Select ENSP00000251472.3:p.Leu523=
ENST00000251472.8:c.1569C>T (MAST1) ENSP00000251472.3:p.Leu523=
ENST00000589040.1:n.624C>T (MAST1)
ENST00000589765.1:n.32+7600G>A (HOOK2)
NM_014975.2:c.1569C>T (MAST1) NP_055790.1:p.Leu523=
XM_011527805.1:c.1557C>T (MAST1) XP_011526107.1:p.Leu519=
XM_011527806.1:c.1281C>T (MAST1) XP_011526108.1:p.Leu427=
XM_011527807.1:c.1041C>T (MAST1) XP_011526109.1:p.Leu347=
XM_011527808.1:c.237C>T (MAST1) XP_011526110.1:p.Leu79=
XM_011527805.2:c.1557C>T (MAST1) XP_011526107.1:p.Leu519=
XM_011527808.2:c.237C>T (MAST1) XP_011526110.1:p.Leu79=
NM_014975.3:c.1569C>T (MAST1) MANE Select NP_055790.1:p.Leu523=