Canonical Allele Identifier: CA458642930

Gene: TMEM176A

Linked Data

• COSMIC: COSM3260879
• MyVariant Identifiers: chr7:g.150501495C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804407C>T , CM000669.2:g.150804407C>T	GRCh38
NC_000007.13:g.150501495C>T , CM000669.1:g.150501495C>T	GRCh37
NC_000007.12:g.150132428C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.601C>T MANE Select	ENSP00000004103.3:p.Leu201=
ENST00000468689.2:c.424C>T	ENSP00000420081.2:p.Leu142=
ENST00000004103.7:c.601C>T	ENSP00000004103.3:p.Leu201=
ENST00000461345.5:c.424C>T	ENSP00000420818.1:p.Leu142=
ENST00000462826.1:n.1778-420C>T
ENST00000474166.1:n.260C>T
ENST00000475007.5:n.497C>T
ENST00000475536.5:c.457C>T	ENSP00000417834.1:p.Leu153=
ENST00000481305.1:n.367-420C>T
ENST00000484928.5:c.601C>T	ENSP00000417626.1:p.Leu201=
ENST00000494349.5:n.1147C>T
NM_018487.2:c.601C>T	NP_060957.2:p.Leu201=
XM_011516376.1:c.652C>T	XP_011514678.1:p.Leu218=
XM_011516377.1:c.652C>T	XP_011514679.1:p.Leu218=
XM_011516378.1:c.607-420C>T	XP_011514680.1:n.607-420C>T
XM_011516376.3:c.652C>T	XP_011514678.1:p.Leu218=
XM_011516377.2:c.652C>T	XP_011514679.1:p.Leu218=
XM_011516378.2:c.607-420C>T	XP_011514680.1:n.607-420C>T
XM_017012393.1:c.601C>T	XP_016867882.1:p.Leu201=
XM_024446824.1:c.556-420C>T	XP_024302592.1:n.556-420C>T
NM_018487.3:c.601C>T MANE Select	NP_060957.2:p.Leu201=