Canonical Allele Identifier: CA371693690

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93797388T>C , CM000670.2:g.93797388T>C	GRCh38
NC_000008.10:g.94809616T>C , CM000670.1:g.94809616T>C	GRCh37
NC_000008.9:g.94878792T>C	NCBI36
NG_009190.1:g.47545T>C , LRG_688:g.47545T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2018T>C MANE Select	NP_714915.3:p.Val673Ala
ENST00000453321.8:c.2018T>C MANE Select	ENSP00000389998.3:p.Val673Ala
NM_001142301.1:c.1775T>C , LRG_688t2:c.1775T>C	NP_001135773.1:p.Val592Ala
NM_153704.5:c.2018T>C , LRG_688t1:c.2018T>C	NP_714915.3:p.Val673Ala
NR_024522.1:n.2089T>C
NR_024522.2:n.2039T>C
ENST00000323130.7:c.1988T>C	ENSP00000314488.3:p.Val663Ala
ENST00000323130.8:c.2018T>C	ENSP00000314488.4:p.Val673Ala
ENST00000409623.7:c.1775T>C	ENSP00000386966.3:p.Val592Ala
ENST00000409623.8:c.1973T>C	ENSP00000386966.4:p.Val658Ala
ENST00000452276.6:c.2018T>C	ENSP00000388671.2:p.Val673Ala
ENST00000453321.7:c.2018T>C	ENSP00000389998.3:p.Val673Ala
ENST00000453906.6:c.1136T>C	ENSP00000403035.2:p.Val379Ala
ENST00000474944.5:n.1156T>C
ENST00000518896.2:c.309T>C	ENSP00000507992.1:n.309T>C
ENST00000519845.5:n.750T>C
ENST00000520680.2:c.2141T>C	ENSP00000428785.2:p.Val714Ala
ENST00000521517.6:c.1919T>C	ENSP00000430740.2:p.Val640Ala
ENST00000523230.5:n.553T>C
ENST00000681998.1:c.1839T>C	ENSP00000506773.1:n.1839T>C
ENST00000682036.1:c.1259T>C	ENSP00000508390.1:p.Val420Ala
ENST00000682577.1:c.1791T>C	ENSP00000506963.1:n.1791T>C
ENST00000682624.1:c.*1592T>C	ENSP00000508343.1:n.*1592T>C
ENST00000682700.1:c.2018T>C	ENSP00000507627.1:p.Val673Ala
ENST00000682744.1:n.1556T>C
ENST00000682804.1:n.1841T>C
ENST00000682837.1:c.1507T>C	ENSP00000507920.1:n.1507T>C
ENST00000682935.1:n.4068T>C
ENST00000682984.1:c.1679T>C	ENSP00000507209.1:p.Val560Ala
ENST00000683078.1:c.1773T>C	ENSP00000506796.1:n.1773T>C
ENST00000683223.1:c.1750T>C	ENSP00000507685.1:n.1750T>C
ENST00000683238.1:n.3242T>C
ENST00000683249.1:n.3615T>C
ENST00000683336.1:c.1839T>C	ENSP00000507695.1:n.1839T>C
ENST00000683362.1:c.1679T>C	ENSP00000506985.1:p.Val560Ala
ENST00000683850.1:n.1941T>C
ENST00000683919.1:c.1948T>C	ENSP00000507617.1:n.1948T>C
ENST00000683953.1:c.1929T>C	ENSP00000508375.1:n.1929T>C
ENST00000684023.1:c.1995T>C	ENSP00000507461.1:n.1995T>C
ENST00000684064.1:c.1709T>C	ENSP00000508192.1:p.Val570Ala
ENST00000684089.1:n.3568T>C
ENST00000684149.1:c.*1197T>C	ENSP00000507943.1:n.*1197T>C
ENST00000684343.1:c.215T>C	ENSP00000507591.1:p.Val72Ala
ENST00000684416.1:n.1977T>C
ENST00000684540.1:c.1948T>C	ENSP00000507987.1:n.1948T>C
XM_006716686.2:c.1715T>C	XP_006716749.1:p.Val572Ala
XM_006716686.4:c.1715T>C	XP_006716749.1:p.Val572Ala
XM_006716687.2:c.1418T>C	XP_006716750.1:p.Val473Ala
XM_011517363.1:c.1136T>C	XP_011515665.1:p.Val379Ala
XM_011517363.3:c.1136T>C	XP_011515665.1:p.Val379Ala
XM_024447326.1:c.1364T>C	XP_024303094.1:p.Val455Ala
XR_001745619.2:n.2059T>C
XR_428387.1:n.2076T>C
XR_428387.2:n.2059T>C
XR_928360.1:n.2076T>C
XR_928360.3:n.2059T>C
XR_928361.1:n.2076T>C
XR_928362.1:n.2076T>C
XR_928362.3:n.2059T>C