Canonical Allele Identifier: CA404271991

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12865089G>A , CM000681.2:g.12865089G>A	GRCh38
NC_000019.9:g.12975903G>A , CM000681.1:g.12975903G>A	GRCh37
NC_000019.8:g.12836903G>A	NCBI36
NG_054729.1:g.36159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.1549G>A (MAST1) MANE Select	ENSP00000251472.3:p.Gly517Ser
ENST00000251472.8:c.1549G>A (MAST1)	ENSP00000251472.3:p.Gly517Ser
ENST00000589040.1:n.604G>A (MAST1)
ENST00000589765.1:n.32+7620C>T (HOOK2)
NM_014975.2:c.1549G>A (MAST1)	NP_055790.1:p.Gly517Ser
XM_011527805.1:c.1537G>A (MAST1)	XP_011526107.1:p.Gly513Ser
XM_011527806.1:c.1261G>A (MAST1)	XP_011526108.1:p.Gly421Ser
XM_011527807.1:c.1021G>A (MAST1)	XP_011526109.1:p.Gly341Ser
XM_011527808.1:c.217G>A (MAST1)	XP_011526110.1:p.Gly73Ser
XM_011527805.2:c.1537G>A (MAST1)	XP_011526107.1:p.Gly513Ser
XM_011527808.2:c.217G>A (MAST1)	XP_011526110.1:p.Gly73Ser
NM_014975.3:c.1549G>A (MAST1) MANE Select	NP_055790.1:p.Gly517Ser