Canonical Allele Identifier: CA371689717

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93786266-A-C
• MyVariant Identifiers: chr8:g.94798494A>C (hg19) ; chr8:g.93786266A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786266A>C , CM000670.2:g.93786266A>C	GRCh38
NC_000008.10:g.94798494A>C , CM000670.1:g.94798494A>C	GRCh37
NC_000008.9:g.94867670A>C	NCBI36
NG_009190.1:g.36423A>C , LRG_688:g.36423A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1332A>C	ENSP00000314488.4:p.Leu444Phe
ENST00000409623.8:c.1289-2A>C	ENSP00000386966.4:n.1289-2A>C
ENST00000452276.6:c.1332A>C	ENSP00000388671.2:p.Leu444Phe
ENST00000453906.6:c.450A>C	ENSP00000403035.2:p.Leu150Phe
ENST00000520680.2:c.1332A>C	ENSP00000428785.2:p.Leu444Phe
ENST00000521517.6:c.1332A>C	ENSP00000430740.2:p.Leu444Phe
ENST00000681998.1:c.1153A>C	ENSP00000506773.1:n.1153A>C
ENST00000682036.1:c.450A>C	ENSP00000508390.1:p.Leu150Phe
ENST00000682577.1:c.1105A>C	ENSP00000506963.1:n.1105A>C
ENST00000682624.1:c.*906A>C	ENSP00000508343.1:n.*906A>C
ENST00000682700.1:c.1332A>C	ENSP00000507627.1:p.Leu444Phe
ENST00000682744.1:n.870A>C
ENST00000682804.1:n.1155A>C
ENST00000682837.1:c.821A>C	ENSP00000507920.1:n.821A>C
ENST00000682935.1:n.3382A>C
ENST00000682984.1:c.993A>C	ENSP00000507209.1:p.Leu331Phe
ENST00000683078.1:c.1087A>C	ENSP00000506796.1:n.1087A>C
ENST00000683223.1:c.1064A>C	ENSP00000507685.1:n.1064A>C
ENST00000683238.1:n.2556A>C
ENST00000683249.1:n.2929A>C
ENST00000683336.1:c.1153A>C	ENSP00000507695.1:n.1153A>C
ENST00000683362.1:c.993A>C	ENSP00000506985.1:p.Leu331Phe
ENST00000683850.1:n.1255A>C
ENST00000683919.1:c.1262A>C	ENSP00000507617.1:n.1262A>C
ENST00000683953.1:c.1243A>C	ENSP00000508375.1:n.1243A>C
ENST00000684023.1:c.1309A>C	ENSP00000507461.1:n.1309A>C
ENST00000684064.1:c.1023A>C	ENSP00000508192.1:p.Leu341Phe
ENST00000684089.1:n.2882A>C
ENST00000684149.1:c.*511A>C	ENSP00000507943.1:n.*511A>C
ENST00000684416.1:n.1291A>C
ENST00000684540.1:c.1262A>C	ENSP00000507987.1:n.1262A>C
ENST00000453321.8:c.1332A>C MANE Select	ENSP00000389998.3:p.Leu444Phe
ENST00000323130.7:c.1302A>C	ENSP00000314488.3:p.Leu434Phe
ENST00000409623.7:c.1089A>C	ENSP00000386966.3:p.Leu363Phe
ENST00000452276.5:c.1023A>C	ENSP00000388671.1:p.Leu341Phe
ENST00000453321.7:c.1332A>C	ENSP00000389998.3:p.Leu444Phe
ENST00000453906.5:c.450A>C	ENSP00000403035.1:p.Leu150Phe
ENST00000474944.5:n.470A>C
ENST00000520680.1:c.154A>C
NM_001142301.1:c.1089A>C , LRG_688t2:c.1089A>C	NP_001135773.1:p.Leu363Phe
NM_153704.5:c.1332A>C , LRG_688t1:c.1332A>C	NP_714915.3:p.Leu444Phe
NR_024522.1:n.1403A>C
XM_006716686.2:c.1029A>C	XP_006716749.1:p.Leu343Phe
XM_006716687.2:c.732A>C	XP_006716750.1:p.Leu244Phe
XM_011517363.1:c.450A>C	XP_011515665.1:p.Leu150Phe
XR_428387.1:n.1390A>C
XR_928360.1:n.1390A>C
XR_928361.1:n.1390A>C
XR_928362.1:n.1390A>C
XM_006716686.4:c.1029A>C	XP_006716749.1:p.Leu343Phe
XM_011517363.3:c.450A>C	XP_011515665.1:p.Leu150Phe
XM_024447326.1:c.678A>C	XP_024303094.1:p.Leu226Phe
XR_001745619.2:n.1373A>C
XR_428387.2:n.1373A>C
XR_928360.3:n.1373A>C
XR_928362.3:n.1373A>C
NM_153704.6:c.1332A>C MANE Select	NP_714915.3:p.Leu444Phe
NR_024522.2:n.1353A>C