Canonical Allele Identifier: CA5084449
Community Standard Title: NM_017662.5(TRPM6):c.2776G>A (p.Val926Ile)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74786017C>T , CM000671.2:g.74786017C>T GRCh38
NC_000009.11:g.77400933C>T , CM000671.1:g.77400933C>T GRCh37
NC_000009.10:g.76590753C>T NCBI36
NG_017036.1:g.107078G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.2776G>A MANE Select NP_060132.3:p.Val926Ile
ENST00000360774.6:c.2776G>A MANE Select ENSP00000354006.1:p.Val926Ile
NM_001177310.1:c.2761G>A NP_001170781.1:p.Val921Ile
NM_001177310.2:c.2761G>A NP_001170781.1:p.Val921Ile
NM_001177311.1:c.2761G>A NP_001170782.1:p.Val921Ile
NM_001177311.2:c.2761G>A NP_001170782.1:p.Val921Ile
NM_017662.4:c.2776G>A NP_060132.3:p.Val926Ile
ENST00000360774.5:c.2776G>A ENSP00000354006.1:p.Val926Ile
ENST00000361255.7:c.2761G>A ENSP00000354962.3:p.Val921Ile
ENST00000449912.6:c.2761G>A ENSP00000396672.2:p.Val921Ile
XM_011518244.1:c.2776G>A XP_011516546.1:p.Val926Ile
XM_011518245.1:c.2683G>A XP_011516547.1:p.Val895Ile
XM_011518246.1:c.2776G>A XP_011516548.1:p.Val926Ile
XM_011518247.1:c.2647G>A XP_011516549.1:p.Val883Ile
XM_011518248.1:c.2635G>A XP_011516550.1:p.Val879Ile
XM_011518249.1:c.2542G>A XP_011516551.1:p.Val848Ile
XM_011518250.1:c.2500G>A XP_011516552.1:p.Val834Ile
XM_011518251.1:c.2047G>A XP_011516553.1:p.Val683Ile
XM_011518251.2:c.2047G>A XP_011516553.1:p.Val683Ile
XM_011518252.1:c.2776G>A XP_011516554.1:p.Val926Ile
XM_011518252.2:c.2776G>A XP_011516554.1:p.Val926Ile
XM_011518253.1:c.709G>A XP_011516555.1:p.Val237Ile
XM_011518254.1:c.2776G>A XP_011516556.1:p.Val926Ile
XM_011518255.1:c.2776G>A XP_011516557.1:p.Val926Ile
XM_011518255.2:c.2776G>A XP_011516557.1:p.Val926Ile
XM_017014287.1:c.2413G>A XP_016869776.1:p.Val805Ile
XM_017014288.1:c.2266G>A XP_016869777.1:p.Val756Ile
XM_017014289.1:c.2776G>A XP_016869778.1:p.Val926Ile
XR_001746185.1:n.3014G>A
XR_929716.1:n.3014G>A
XR_929717.1:n.3014G>A
XR_929717.2:n.3014G>A
XR_929718.1:n.3014G>A