Canonical Allele Identifier: CA382440938
Community Standard Title: NM_004621.6(TRPC6):c.1584G>A (p.Met528Ile)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101476461C>T , CM000673.2:g.101476461C>T GRCh38
NC_000011.9:g.101347192C>T , CM000673.1:g.101347192C>T GRCh37
NC_000011.8:g.100852402C>T NCBI36
NG_011476.1:g.112468G>A
NG_011476.2:g.112468G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.1584G>A MANE Select NP_004612.2:p.Met528Ile
ENST00000344327.8:c.1584G>A MANE Select ENSP00000340913.3:p.Met528Ile
NM_004621.5:c.1584G>A NP_004612.2:p.Met528Ile
ENST00000344327.7:c.1584G>A ENSP00000340913.3:p.Met528Ile
ENST00000348423.8:c.1236G>A ENSP00000343672.4:p.Met412Ile
ENST00000360497.4:c.1419G>A ENSP00000353687.4:p.Met473Ile
ENST00000532133.5:c.1511-2688G>A ENSP00000435574.1:n.1511-2688G>A
XM_006718898.2:c.1584G>A XP_006718961.1:p.Met528Ile
XM_011542968.1:c.1419G>A XP_011541270.1:p.Met473Ile
XM_011542968.3:c.1419G>A XP_011541270.1:p.Met473Ile
XM_011542969.1:c.1584G>A XP_011541271.1:p.Met528Ile
XM_017018221.2:c.1236G>A XP_016873710.1:p.Met412Ile
XR_001747948.2:n.1940G>A