Canonical Allele Identifier: CA382441206

Gene: TRPC6

Linked Data

• MyVariant Identifiers: chr11:g.101353683T>A (hg19) ; chr11:g.101482952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101482952T>A , CM000673.2:g.101482952T>A	GRCh38
NC_000011.9:g.101353683T>A , CM000673.1:g.101353683T>A	GRCh37
NC_000011.8:g.100858893T>A	NCBI36
NG_011476.1:g.105977A>T
NG_011476.2:g.105977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1507A>T MANE Select	ENSP00000340913.3:p.Ile503Leu
ENST00000344327.7:c.1507A>T	ENSP00000340913.3:p.Ile503Leu
ENST00000348423.8:c.1159A>T	ENSP00000343672.4:p.Ile387Leu
ENST00000360497.4:c.1342A>T	ENSP00000353687.4:p.Ile448Leu
ENST00000532133.5:c.1507A>T	ENSP00000435574.1:p.Ile503Leu
NM_004621.5:c.1507A>T	NP_004612.2:p.Ile503Leu
XM_006718898.2:c.1507A>T	XP_006718961.1:p.Ile503Leu
XM_011542968.1:c.1342A>T	XP_011541270.1:p.Ile448Leu
XM_011542969.1:c.1507A>T	XP_011541271.1:p.Ile503Leu
XM_011542968.3:c.1342A>T	XP_011541270.1:p.Ile448Leu
XM_017018221.2:c.1159A>T	XP_016873710.1:p.Ile387Leu
XR_001747948.2:n.1863A>T
NM_004621.6:c.1507A>T MANE Select	NP_004612.2:p.Ile503Leu