Canonical Allele Identifier: CA2651483

Gene: TRPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142724609C>T , CM000665.2:g.142724609C>T	GRCh38
NC_000003.11:g.142443451C>T , CM000665.1:g.142443451C>T	GRCh37
NC_000003.10:g.143926141C>T	NCBI36
NG_030369.1:g.5186C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001251845.2:c.50C>T MANE Select	NP_001238774.1:p.Ser17Phe
ENST00000476941.6:c.50C>T MANE Select	ENSP00000419313.1:p.Ser17Phe
NM_001251845.1:c.50C>T	NP_001238774.1:p.Ser17Phe
NM_003304.4:c.50C>T	NP_003295.1:p.Ser17Phe
NM_003304.5:c.50C>T	NP_003295.1:p.Ser17Phe
ENST00000273482.10:c.50C>T	ENSP00000273482.6:p.Ser17Phe
ENST00000460401.1:c.45C>T
ENST00000476941.5:c.50C>T	ENSP00000419313.1:p.Ser17Phe
ENST00000612385.1:c.50C>T	ENSP00000481537.1:p.Ser17Phe
ENST00000698238.1:c.359C>T	ENSP00000513620.1:p.Ser120Phe
XM_005247738.2:c.-90C>T	XP_005247795.1:n.-90C>T
XM_005247738.4:c.-90C>T	XP_005247795.1:n.-90C>T
XM_005247739.1:c.-90C>T	XP_005247796.1:n.-90C>T
XM_005247739.2:c.-90C>T	XP_005247796.1:n.-90C>T
XR_241506.2:n.578C>T
XR_241506.4:n.101C>T
XR_924164.1:n.578C>T
XR_924165.1:n.578C>T
XR_924166.1:n.578C>T