Canonical Allele Identifier: CA461855743

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780895-G-C
• COSMIC: COSM5976953 ; COSM5976954 ; COSM5976955
• MyVariant Identifiers: chr8:g.94793123G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780895G>C , CM000670.2:g.93780895G>C	GRCh38
NC_000008.10:g.94793123G>C , CM000670.1:g.94793123G>C	GRCh37
NC_000008.9:g.94862299G>C	NCBI36
NG_009190.1:g.31052G>C , LRG_688:g.31052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.891G>C	ENSP00000314488.4:p.Leu297=
ENST00000409623.8:c.891G>C	ENSP00000386966.4:p.Leu297=
ENST00000452276.6:c.891G>C	ENSP00000388671.2:p.Leu297=
ENST00000453906.6:c.407-5328G>C	ENSP00000403035.2:n.407-5328G>C
ENST00000520680.2:c.891G>C	ENSP00000428785.2:p.Leu297=
ENST00000521065.2:c.*608G>C	ENSP00000427947.2:n.*608G>C
ENST00000521517.6:c.891G>C	ENSP00000430740.2:p.Leu297=
ENST00000681998.1:c.799+148G>C	ENSP00000506773.1:n.799+148G>C
ENST00000682036.1:c.407-5328G>C	ENSP00000508390.1:n.407-5328G>C
ENST00000682577.1:c.821G>C	ENSP00000506963.1:n.821G>C
ENST00000682624.1:c.*465G>C	ENSP00000508343.1:n.*465G>C
ENST00000682700.1:c.891G>C	ENSP00000507627.1:p.Leu297=
ENST00000682744.1:n.429G>C
ENST00000682804.1:n.714G>C
ENST00000682837.1:c.624+148G>C	ENSP00000507920.1:n.624+148G>C
ENST00000682935.1:n.2451G>C
ENST00000682984.1:c.552G>C	ENSP00000507209.1:p.Leu184=
ENST00000683078.1:c.646G>C	ENSP00000506796.1:n.646G>C
ENST00000683223.1:c.710+148G>C	ENSP00000507685.1:n.710+148G>C
ENST00000683238.1:n.2272G>C
ENST00000683249.1:n.2488G>C
ENST00000683336.1:c.799+148G>C	ENSP00000507695.1:n.799+148G>C
ENST00000683362.1:c.552G>C	ENSP00000506985.1:p.Leu184=
ENST00000683850.1:n.814G>C
ENST00000683919.1:c.821G>C	ENSP00000507617.1:n.821G>C
ENST00000683953.1:c.802G>C	ENSP00000508375.1:n.802G>C
ENST00000684023.1:c.1025G>C	ENSP00000507461.1:n.1025G>C
ENST00000684064.1:c.582G>C	ENSP00000508192.1:p.Leu194=
ENST00000684089.1:n.2441G>C
ENST00000684149.1:c.*227G>C	ENSP00000507943.1:n.*227G>C
ENST00000684416.1:n.850G>C
ENST00000684540.1:c.821G>C	ENSP00000507987.1:n.821G>C
ENST00000453321.8:c.891G>C MANE Select	ENSP00000389998.3:p.Leu297=
ENST00000323130.7:c.861G>C	ENSP00000314488.3:p.Leu287=
ENST00000409623.7:c.648G>C	ENSP00000386966.3:p.Leu216=
ENST00000425545.2:n.338G>C
ENST00000452276.5:c.582G>C	ENSP00000388671.1:p.Leu194=
ENST00000453321.7:c.891G>C	ENSP00000389998.3:p.Leu297=
ENST00000453906.5:c.407-5328G>C	ENSP00000403035.1:n.407-5328G>C
ENST00000474944.5:n.427-5328G>C
ENST00000496213.5:n.356G>C
NM_001142301.1:c.648G>C , LRG_688t2:c.648G>C	NP_001135773.1:p.Leu216=
NM_153704.5:c.891G>C , LRG_688t1:c.891G>C	NP_714915.3:p.Leu297=
NR_024522.1:n.962G>C
XM_006716686.2:c.588G>C	XP_006716749.1:p.Leu196=
XM_006716687.2:c.291G>C	XP_006716750.1:p.Leu97=
XM_011517363.1:c.407-5328G>C	XP_011515665.1:n.407-5328G>C
XR_428387.1:n.949G>C
XR_928360.1:n.949G>C
XR_928361.1:n.949G>C
XR_928362.1:n.949G>C
XM_006716686.4:c.588G>C	XP_006716749.1:p.Leu196=
XM_011517363.3:c.407-5328G>C	XP_011515665.1:n.407-5328G>C
XM_024447326.1:c.237G>C	XP_024303094.1:p.Leu79=
XR_001745619.2:n.932G>C
XR_428387.2:n.932G>C
XR_928360.3:n.932G>C
XR_928362.3:n.932G>C
NM_153704.6:c.891G>C MANE Select	NP_714915.3:p.Leu297=
NR_024522.2:n.912G>C