Canonical Allele Identifier: CA461855647

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792833C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780605C>T , CM000670.2:g.93780605C>T	GRCh38
NC_000008.10:g.94792833C>T , CM000670.1:g.94792833C>T	GRCh37
NC_000008.9:g.94862009C>T	NCBI36
NG_009190.1:g.30762C>T , LRG_688:g.30762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.727C>T	ENSP00000314488.4:p.Leu243=
ENST00000409623.8:c.727C>T	ENSP00000386966.4:p.Leu243=
ENST00000452276.6:c.727C>T	ENSP00000388671.2:p.Leu243=
ENST00000453906.6:c.407-5618C>T	ENSP00000403035.2:n.407-5618C>T
ENST00000520680.2:c.727C>T	ENSP00000428785.2:p.Leu243=
ENST00000521065.2:c.*444C>T	ENSP00000427947.2:n.*444C>T
ENST00000521517.6:c.727C>T	ENSP00000430740.2:p.Leu243=
ENST00000681998.1:c.657C>T	ENSP00000506773.1:n.657C>T
ENST00000682036.1:c.407-5618C>T	ENSP00000508390.1:n.407-5618C>T
ENST00000682577.1:c.657C>T	ENSP00000506963.1:n.657C>T
ENST00000682624.1:c.*301C>T	ENSP00000508343.1:n.*301C>T
ENST00000682700.1:c.727C>T	ENSP00000507627.1:p.Leu243=
ENST00000682744.1:n.265C>T
ENST00000682804.1:n.550C>T
ENST00000682837.1:c.482C>T	ENSP00000507920.1:p.Ser161Phe
ENST00000682935.1:n.2287C>T
ENST00000682984.1:c.388C>T	ENSP00000507209.1:p.Leu130=
ENST00000683078.1:c.482C>T	ENSP00000506796.1:p.Ser161Phe
ENST00000683223.1:c.568C>T	ENSP00000507685.1:n.568C>T
ENST00000683238.1:n.2108C>T
ENST00000683249.1:n.2308C>T
ENST00000683336.1:c.657C>T	ENSP00000507695.1:n.657C>T
ENST00000683362.1:c.388C>T	ENSP00000506985.1:p.Leu130=
ENST00000683850.1:n.650C>T
ENST00000683919.1:c.657C>T	ENSP00000507617.1:n.657C>T
ENST00000683953.1:c.638C>T	ENSP00000508375.1:n.638C>T
ENST00000684023.1:c.861C>T	ENSP00000507461.1:n.861C>T
ENST00000684064.1:c.418C>T	ENSP00000508192.1:p.Leu140=
ENST00000684089.1:n.2277C>T
ENST00000684149.1:c.*63C>T	ENSP00000507943.1:n.*63C>T
ENST00000684416.1:n.686C>T
ENST00000684540.1:c.657C>T	ENSP00000507987.1:n.657C>T
ENST00000453321.8:c.727C>T MANE Select	ENSP00000389998.3:p.Leu243=
ENST00000323130.7:c.697C>T	ENSP00000314488.3:p.Leu233=
ENST00000409623.7:c.484C>T	ENSP00000386966.3:p.Leu162=
ENST00000425545.2:n.174C>T
ENST00000452276.5:c.418C>T	ENSP00000388671.1:p.Leu140=
ENST00000453321.7:c.727C>T	ENSP00000389998.3:p.Leu243=
ENST00000453906.5:c.407-5618C>T	ENSP00000403035.1:n.407-5618C>T
ENST00000474944.5:n.427-5618C>T
ENST00000496213.5:n.192C>T
NM_001142301.1:c.484C>T , LRG_688t2:c.484C>T	NP_001135773.1:p.Leu162=
NM_153704.5:c.727C>T , LRG_688t1:c.727C>T	NP_714915.3:p.Leu243=
NR_024522.1:n.798C>T
XM_006716686.2:c.424C>T	XP_006716749.1:p.Leu142=
XM_006716687.2:c.127C>T	XP_006716750.1:p.Leu43=
XM_011517363.1:c.407-5618C>T	XP_011515665.1:n.407-5618C>T
XR_428387.1:n.785C>T
XR_928360.1:n.785C>T
XR_928361.1:n.785C>T
XR_928362.1:n.785C>T
XM_006716686.4:c.424C>T	XP_006716749.1:p.Leu142=
XM_011517363.3:c.407-5618C>T	XP_011515665.1:n.407-5618C>T
XM_024447326.1:c.73C>T	XP_024303094.1:p.Leu25=
XR_001745619.2:n.768C>T
XR_428387.2:n.768C>T
XR_928360.3:n.768C>T
XR_928362.3:n.768C>T
NM_153704.6:c.727C>T MANE Select	NP_714915.3:p.Leu243=
NR_024522.2:n.748C>T