Canonical Allele Identifier: CA371688103
Community Standard Title: NM_153704.6(TMEM67):c.863C>G (p.Ser288Ter)
Gene: TMEM67 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780741C>G , CM000670.2:g.93780741C>G GRCh38
NC_000008.10:g.94792969C>G , CM000670.1:g.94792969C>G GRCh37
NC_000008.9:g.94862145C>G NCBI36
NG_009190.1:g.30898C>G , LRG_688:g.30898C>G

Transcript Alleles

HGVS Amino-acid Change
NM_153704.6:c.863C>G MANE Select NP_714915.3:p.Ser288Ter
ENST00000453321.8:c.863C>G MANE Select ENSP00000389998.3:p.Ser288Ter
NM_001142301.1:c.620C>G , LRG_688t2:c.620C>G NP_001135773.1:p.Ser207Ter
NM_153704.5:c.863C>G , LRG_688t1:c.863C>G NP_714915.3:p.Ser288Ter
NR_024522.1:n.934C>G
NR_024522.2:n.884C>G
ENST00000323130.7:c.833C>G ENSP00000314488.3:p.Ser278Ter
ENST00000323130.8:c.863C>G ENSP00000314488.4:p.Ser288Ter
ENST00000409623.7:c.620C>G ENSP00000386966.3:p.Ser207Ter
ENST00000409623.8:c.863C>G ENSP00000386966.4:p.Ser288Ter
ENST00000425545.2:n.310C>G
ENST00000452276.5:c.554C>G ENSP00000388671.1:p.Ser185Ter
ENST00000452276.6:c.863C>G ENSP00000388671.2:p.Ser288Ter
ENST00000453321.7:c.863C>G ENSP00000389998.3:p.Ser288Ter
ENST00000453906.5:c.407-5482C>G ENSP00000403035.1:n.407-5482C>G
ENST00000453906.6:c.407-5482C>G ENSP00000403035.2:n.407-5482C>G
ENST00000474944.5:n.427-5482C>G
ENST00000496213.5:n.328C>G
ENST00000520680.2:c.863C>G ENSP00000428785.2:p.Ser288Ter
ENST00000521065.2:c.*580C>G ENSP00000427947.2:n.*580C>G
ENST00000521517.6:c.863C>G ENSP00000430740.2:p.Ser288Ter
ENST00000681998.1:c.793C>G ENSP00000506773.1:n.793C>G
ENST00000682036.1:c.407-5482C>G ENSP00000508390.1:n.407-5482C>G
ENST00000682577.1:c.793C>G ENSP00000506963.1:n.793C>G
ENST00000682624.1:c.*437C>G ENSP00000508343.1:n.*437C>G
ENST00000682700.1:c.863C>G ENSP00000507627.1:p.Ser288Ter
ENST00000682744.1:n.401C>G
ENST00000682804.1:n.686C>G
ENST00000682837.1:c.618C>G ENSP00000507920.1:n.618C>G
ENST00000682935.1:n.2423C>G
ENST00000682984.1:c.524C>G ENSP00000507209.1:p.Ser175Ter
ENST00000683078.1:c.618C>G ENSP00000506796.1:n.618C>G
ENST00000683223.1:c.704C>G ENSP00000507685.1:n.704C>G
ENST00000683238.1:n.2244C>G
ENST00000683249.1:n.2444C>G
ENST00000683336.1:c.793C>G ENSP00000507695.1:n.793C>G
ENST00000683362.1:c.524C>G ENSP00000506985.1:p.Ser175Ter
ENST00000683850.1:n.786C>G
ENST00000683919.1:c.793C>G ENSP00000507617.1:n.793C>G
ENST00000683953.1:c.774C>G ENSP00000508375.1:n.774C>G
ENST00000684023.1:c.997C>G ENSP00000507461.1:n.997C>G
ENST00000684064.1:c.554C>G ENSP00000508192.1:p.Ser185Ter
ENST00000684089.1:n.2413C>G
ENST00000684149.1:c.*199C>G ENSP00000507943.1:n.*199C>G
ENST00000684416.1:n.822C>G
ENST00000684540.1:c.793C>G ENSP00000507987.1:n.793C>G
XM_006716686.2:c.560C>G XP_006716749.1:p.Ser187Ter
XM_006716686.4:c.560C>G XP_006716749.1:p.Ser187Ter
XM_006716687.2:c.263C>G XP_006716750.1:p.Ser88Ter
XM_011517363.1:c.407-5482C>G XP_011515665.1:n.407-5482C>G
XM_011517363.3:c.407-5482C>G XP_011515665.1:n.407-5482C>G
XM_024447326.1:c.209C>G XP_024303094.1:p.Ser70Ter
XR_001745619.2:n.904C>G
XR_428387.1:n.921C>G
XR_428387.2:n.904C>G
XR_928360.1:n.921C>G
XR_928360.3:n.904C>G
XR_928361.1:n.921C>G
XR_928362.1:n.921C>G
XR_928362.3:n.904C>G