Canonical Allele Identifier: CA371695192

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93799639G>C , CM000670.2:g.93799639G>C	GRCh38
NC_000008.10:g.94811867G>C , CM000670.1:g.94811867G>C	GRCh37
NC_000008.9:g.94881043G>C	NCBI36
NG_009190.1:g.49796G>C , LRG_688:g.49796G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153704.6:c.2122G>C MANE Select	NP_714915.3:p.Ala708Pro
ENST00000453321.8:c.2122G>C MANE Select	ENSP00000389998.3:p.Ala708Pro
NM_001142301.1:c.1879G>C , LRG_688t2:c.1879G>C	NP_001135773.1:p.Ala627Pro
NM_153704.5:c.2122G>C , LRG_688t1:c.2122G>C	NP_714915.3:p.Ala708Pro
NR_024522.1:n.2193G>C
NR_024522.2:n.2143G>C
ENST00000323130.7:c.2092G>C	ENSP00000314488.3:p.Ala698Pro
ENST00000323130.8:c.2122G>C	ENSP00000314488.4:p.Ala708Pro
ENST00000409623.7:c.1879G>C	ENSP00000386966.3:p.Ala627Pro
ENST00000409623.8:c.2077G>C	ENSP00000386966.4:p.Ala693Pro
ENST00000452276.6:c.2122G>C	ENSP00000388671.2:p.Ala708Pro
ENST00000453321.7:c.2122G>C	ENSP00000389998.3:p.Ala708Pro
ENST00000453906.6:c.1240G>C	ENSP00000403035.2:p.Ala414Pro
ENST00000474944.5:n.1260G>C
ENST00000518896.2:c.413G>C	ENSP00000507992.1:n.413G>C
ENST00000519845.5:n.854G>C
ENST00000520680.2:c.2245G>C	ENSP00000428785.2:p.Ala749Pro
ENST00000521517.6:c.2023G>C	ENSP00000430740.2:p.Ala675Pro
ENST00000681998.1:c.1943G>C	ENSP00000506773.1:n.1943G>C
ENST00000682036.1:c.1363G>C	ENSP00000508390.1:p.Ala455Pro
ENST00000682577.1:c.1895G>C	ENSP00000506963.1:n.1895G>C
ENST00000682624.1:c.*1696G>C	ENSP00000508343.1:n.*1696G>C
ENST00000682700.1:c.2122G>C	ENSP00000507627.1:p.Ala708Pro
ENST00000682744.1:n.1660G>C
ENST00000682804.1:n.1945G>C
ENST00000682837.1:c.1611G>C	ENSP00000507920.1:n.1611G>C
ENST00000682935.1:n.4172G>C
ENST00000682984.1:c.1783G>C	ENSP00000507209.1:p.Ala595Pro
ENST00000683078.1:c.1877G>C	ENSP00000506796.1:n.1877G>C
ENST00000683223.1:c.1854G>C	ENSP00000507685.1:n.1854G>C
ENST00000683238.1:n.3346G>C
ENST00000683249.1:n.3719G>C
ENST00000683336.1:c.1943G>C	ENSP00000507695.1:n.1943G>C
ENST00000683362.1:c.1783G>C	ENSP00000506985.1:p.Ala595Pro
ENST00000683850.1:n.2045G>C
ENST00000683919.1:c.2052G>C	ENSP00000507617.1:n.2052G>C
ENST00000683953.1:c.2033G>C	ENSP00000508375.1:n.2033G>C
ENST00000684023.1:c.2099G>C	ENSP00000507461.1:n.2099G>C
ENST00000684064.1:c.1813G>C	ENSP00000508192.1:p.Ala605Pro
ENST00000684089.1:n.3672G>C
ENST00000684149.1:c.*1301G>C	ENSP00000507943.1:n.*1301G>C
ENST00000684343.1:c.319G>C	ENSP00000507591.1:p.Ala107Pro
ENST00000684416.1:n.2081G>C
ENST00000684540.1:c.2052G>C	ENSP00000507987.1:n.2052G>C
XM_006716686.2:c.1819G>C	XP_006716749.1:p.Ala607Pro
XM_006716686.4:c.1819G>C	XP_006716749.1:p.Ala607Pro
XM_006716687.2:c.1522G>C	XP_006716750.1:p.Ala508Pro
XM_011517363.1:c.1240G>C	XP_011515665.1:p.Ala414Pro
XM_011517363.3:c.1240G>C	XP_011515665.1:p.Ala414Pro
XM_024447326.1:c.1468G>C	XP_024303094.1:p.Ala490Pro
XR_001745619.2:n.2163G>C
XR_428387.1:n.2180G>C
XR_428387.2:n.2163G>C
XR_928360.1:n.2180G>C
XR_928360.3:n.2163G>C
XR_928361.1:n.2180G>C
XR_928362.1:n.2180G>C
XR_928362.3:n.2163G>C