Canonical Allele Identifier: CA10581483

Gene: MAST1 HOOK2

Linked Data

• ClinVar Variation Id: 235895
• ClinVar RCV Id: RCV000224975 ; RCV002287395
• dbSNP Id: rs878853165
• MyVariant Identifiers: chr19:g.12954372C>T (hg19) ; chr19:g.12843558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12843558C>T , CM000681.2:g.12843558C>T	GRCh38
NC_000019.9:g.12954372C>T , CM000681.1:g.12954372C>T	GRCh37
NC_000019.8:g.12815372C>T	NCBI36
NG_054729.1:g.14628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.266C>T (MAST1)	ENSP00000466470.1:p.Ser89Leu
ENST00000251472.9:c.278C>T (MAST1) MANE Select	ENSP00000251472.3:p.Ser93Leu
ENST00000251472.8:c.278C>T (MAST1)	ENSP00000251472.3:p.Ser93Leu
ENST00000588379.5:c.138C>T (MAST1)
ENST00000589765.1:n.33-17058G>A (HOOK2)
ENST00000590883.1:n.348+2492C>T (MAST1)
ENST00000591495.5:c.266C>T (MAST1)	ENSP00000466470.1:p.Ser89Leu
NM_014975.2:c.278C>T (MAST1)	NP_055790.1:p.Ser93Leu
XM_011527805.1:c.266C>T (MAST1)	XP_011526107.1:p.Ser89Leu
XM_011527806.1:c.40-3732C>T (MAST1)	XP_011526108.1:n.40-3732C>T
XM_011527807.1:c.-251C>T (MAST1)	XP_011526109.1:n.-251C>T
XM_011527805.2:c.266C>T (MAST1)	XP_011526107.1:p.Ser89Leu
NM_014975.3:c.278C>T (MAST1) MANE Select	NP_055790.1:p.Ser93Leu