Canonical Allele Identifier: CA371688481

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793194T>C (hg19) ; chr8:g.93780966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780966T>C , CM000670.2:g.93780966T>C	GRCh38
NC_000008.10:g.94793194T>C , CM000670.1:g.94793194T>C	GRCh37
NC_000008.9:g.94862370T>C	NCBI36
NG_009190.1:g.31123T>C , LRG_688:g.31123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.962T>C	ENSP00000314488.4:p.Phe321Ser
ENST00000409623.8:c.962T>C	ENSP00000386966.4:p.Phe321Ser
ENST00000452276.6:c.962T>C	ENSP00000388671.2:p.Phe321Ser
ENST00000453906.6:c.407-5257T>C	ENSP00000403035.2:n.407-5257T>C
ENST00000520680.2:c.962T>C	ENSP00000428785.2:p.Phe321Ser
ENST00000521065.2:c.*679T>C	ENSP00000427947.2:n.*679T>C
ENST00000521517.6:c.962T>C	ENSP00000430740.2:p.Phe321Ser
ENST00000681998.1:c.799+219T>C	ENSP00000506773.1:n.799+219T>C
ENST00000682036.1:c.407-5257T>C	ENSP00000508390.1:n.407-5257T>C
ENST00000682577.1:c.892T>C	ENSP00000506963.1:n.892T>C
ENST00000682624.1:c.*536T>C	ENSP00000508343.1:n.*536T>C
ENST00000682700.1:c.962T>C	ENSP00000507627.1:p.Phe321Ser
ENST00000682744.1:n.500T>C
ENST00000682804.1:n.785T>C
ENST00000682837.1:c.624+219T>C	ENSP00000507920.1:n.624+219T>C
ENST00000682935.1:n.2522T>C
ENST00000682984.1:c.623T>C	ENSP00000507209.1:p.Phe208Ser
ENST00000683078.1:c.717T>C	ENSP00000506796.1:n.717T>C
ENST00000683223.1:c.710+219T>C	ENSP00000507685.1:n.710+219T>C
ENST00000683238.1:n.2343T>C
ENST00000683249.1:n.2559T>C
ENST00000683336.1:c.799+219T>C	ENSP00000507695.1:n.799+219T>C
ENST00000683362.1:c.623T>C	ENSP00000506985.1:p.Phe208Ser
ENST00000683850.1:n.885T>C
ENST00000683919.1:c.892T>C	ENSP00000507617.1:n.892T>C
ENST00000683953.1:c.873T>C	ENSP00000508375.1:n.873T>C
ENST00000684023.1:c.1096T>C	ENSP00000507461.1:n.1096T>C
ENST00000684064.1:c.653T>C	ENSP00000508192.1:p.Phe218Ser
ENST00000684089.1:n.2512T>C
ENST00000684149.1:c.*298T>C	ENSP00000507943.1:n.*298T>C
ENST00000684416.1:n.921T>C
ENST00000684540.1:c.892T>C	ENSP00000507987.1:n.892T>C
ENST00000453321.8:c.962T>C MANE Select	ENSP00000389998.3:p.Phe321Ser
ENST00000323130.7:c.932T>C	ENSP00000314488.3:p.Phe311Ser
ENST00000409623.7:c.719T>C	ENSP00000386966.3:p.Phe240Ser
ENST00000425545.2:n.409T>C
ENST00000452276.5:c.653T>C	ENSP00000388671.1:p.Phe218Ser
ENST00000453321.7:c.962T>C	ENSP00000389998.3:p.Phe321Ser
ENST00000453906.5:c.407-5257T>C	ENSP00000403035.1:n.407-5257T>C
ENST00000474944.5:n.427-5257T>C
ENST00000496213.5:n.427T>C
NM_001142301.1:c.719T>C , LRG_688t2:c.719T>C	NP_001135773.1:p.Phe240Ser
NM_153704.5:c.962T>C , LRG_688t1:c.962T>C	NP_714915.3:p.Phe321Ser
NR_024522.1:n.1033T>C
XM_006716686.2:c.659T>C	XP_006716749.1:p.Phe220Ser
XM_006716687.2:c.362T>C	XP_006716750.1:p.Phe121Ser
XM_011517363.1:c.407-5257T>C	XP_011515665.1:n.407-5257T>C
XR_428387.1:n.1020T>C
XR_928360.1:n.1020T>C
XR_928361.1:n.1020T>C
XR_928362.1:n.1020T>C
XM_006716686.4:c.659T>C	XP_006716749.1:p.Phe220Ser
XM_011517363.3:c.407-5257T>C	XP_011515665.1:n.407-5257T>C
XM_024447326.1:c.308T>C	XP_024303094.1:p.Phe103Ser
XR_001745619.2:n.1003T>C
XR_428387.2:n.1003T>C
XR_928360.3:n.1003T>C
XR_928362.3:n.1003T>C
NM_153704.6:c.962T>C MANE Select	NP_714915.3:p.Phe321Ser
NR_024522.2:n.983T>C