Canonical Allele Identifier: CA461858843

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94798491C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786263C>T , CM000670.2:g.93786263C>T	GRCh38
NC_000008.10:g.94798491C>T , CM000670.1:g.94798491C>T	GRCh37
NC_000008.9:g.94867667C>T	NCBI36
NG_009190.1:g.36420C>T , LRG_688:g.36420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1329C>T	ENSP00000314488.4:p.Phe443=
ENST00000409623.8:c.1289-5C>T	ENSP00000386966.4:n.1289-5C>T
ENST00000452276.6:c.1329C>T	ENSP00000388671.2:p.Phe443=
ENST00000453906.6:c.447C>T	ENSP00000403035.2:p.Phe149=
ENST00000520680.2:c.1329C>T	ENSP00000428785.2:p.Phe443=
ENST00000521517.6:c.1329C>T	ENSP00000430740.2:p.Phe443=
ENST00000681998.1:c.1150C>T	ENSP00000506773.1:n.1150C>T
ENST00000682036.1:c.447C>T	ENSP00000508390.1:p.Phe149=
ENST00000682577.1:c.1102C>T	ENSP00000506963.1:n.1102C>T
ENST00000682624.1:c.*903C>T	ENSP00000508343.1:n.*903C>T
ENST00000682700.1:c.1329C>T	ENSP00000507627.1:p.Phe443=
ENST00000682744.1:n.867C>T
ENST00000682804.1:n.1152C>T
ENST00000682837.1:c.818C>T	ENSP00000507920.1:n.818C>T
ENST00000682935.1:n.3379C>T
ENST00000682984.1:c.990C>T	ENSP00000507209.1:p.Phe330=
ENST00000683078.1:c.1084C>T	ENSP00000506796.1:n.1084C>T
ENST00000683223.1:c.1061C>T	ENSP00000507685.1:n.1061C>T
ENST00000683238.1:n.2553C>T
ENST00000683249.1:n.2926C>T
ENST00000683336.1:c.1150C>T	ENSP00000507695.1:n.1150C>T
ENST00000683362.1:c.990C>T	ENSP00000506985.1:p.Phe330=
ENST00000683850.1:n.1252C>T
ENST00000683919.1:c.1259C>T	ENSP00000507617.1:n.1259C>T
ENST00000683953.1:c.1240C>T	ENSP00000508375.1:n.1240C>T
ENST00000684023.1:c.1306C>T	ENSP00000507461.1:n.1306C>T
ENST00000684064.1:c.1020C>T	ENSP00000508192.1:p.Phe340=
ENST00000684089.1:n.2879C>T
ENST00000684149.1:c.*508C>T	ENSP00000507943.1:n.*508C>T
ENST00000684416.1:n.1288C>T
ENST00000684540.1:c.1259C>T	ENSP00000507987.1:n.1259C>T
ENST00000453321.8:c.1329C>T MANE Select	ENSP00000389998.3:p.Phe443=
ENST00000323130.7:c.1299C>T	ENSP00000314488.3:p.Phe433=
ENST00000409623.7:c.1086C>T	ENSP00000386966.3:p.Phe362=
ENST00000452276.5:c.1020C>T	ENSP00000388671.1:p.Phe340=
ENST00000453321.7:c.1329C>T	ENSP00000389998.3:p.Phe443=
ENST00000453906.5:c.447C>T	ENSP00000403035.1:p.Phe149=
ENST00000474944.5:n.467C>T
ENST00000520680.1:c.151C>T
NM_001142301.1:c.1086C>T , LRG_688t2:c.1086C>T	NP_001135773.1:p.Phe362=
NM_153704.5:c.1329C>T , LRG_688t1:c.1329C>T	NP_714915.3:p.Phe443=
NR_024522.1:n.1400C>T
XM_006716686.2:c.1026C>T	XP_006716749.1:p.Phe342=
XM_006716687.2:c.729C>T	XP_006716750.1:p.Phe243=
XM_011517363.1:c.447C>T	XP_011515665.1:p.Phe149=
XR_428387.1:n.1387C>T
XR_928360.1:n.1387C>T
XR_928361.1:n.1387C>T
XR_928362.1:n.1387C>T
XM_006716686.4:c.1026C>T	XP_006716749.1:p.Phe342=
XM_011517363.3:c.447C>T	XP_011515665.1:p.Phe149=
XM_024447326.1:c.675C>T	XP_024303094.1:p.Phe225=
XR_001745619.2:n.1370C>T
XR_428387.2:n.1370C>T
XR_928360.3:n.1370C>T
XR_928362.3:n.1370C>T
NM_153704.6:c.1329C>T MANE Select	NP_714915.3:p.Phe443=
NR_024522.2:n.1350C>T