Canonical Allele Identifier: CA461867485

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821303C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809075C>T , CM000670.2:g.93809075C>T	GRCh38
NC_000008.10:g.94821303C>T , CM000670.1:g.94821303C>T	GRCh37
NC_000008.9:g.94890479C>T	NCBI36
NG_009190.1:g.59232C>T , LRG_688:g.59232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2575C>T	ENSP00000314488.4:p.Leu859=
ENST00000409623.8:c.2530C>T	ENSP00000386966.4:p.Leu844=
ENST00000452276.6:c.2458C>T	ENSP00000388671.2:p.Leu820=
ENST00000453906.6:c.1693C>T	ENSP00000403035.2:p.Leu565=
ENST00000518896.2:c.866C>T	ENSP00000507992.1:n.866C>T
ENST00000520680.2:c.2698C>T	ENSP00000428785.2:p.Leu900=
ENST00000521517.6:c.2476C>T	ENSP00000430740.2:p.Leu826=
ENST00000681998.1:c.2396C>T	ENSP00000506773.1:n.2396C>T
ENST00000682036.1:c.1816C>T	ENSP00000508390.1:p.Leu606=
ENST00000682577.1:c.2348C>T	ENSP00000506963.1:n.2348C>T
ENST00000682624.1:c.*2149C>T	ENSP00000508343.1:n.*2149C>T
ENST00000682700.1:c.2575C>T	ENSP00000507627.1:p.Leu859=
ENST00000682744.1:n.2113C>T
ENST00000682804.1:n.2398C>T
ENST00000682837.1:c.2064C>T	ENSP00000507920.1:n.2064C>T
ENST00000682935.1:n.4625C>T
ENST00000682984.1:c.2236C>T	ENSP00000507209.1:p.Leu746=
ENST00000683078.1:c.2330C>T	ENSP00000506796.1:n.2330C>T
ENST00000683223.1:c.2307C>T	ENSP00000507685.1:n.2307C>T
ENST00000683238.1:n.3799C>T
ENST00000683249.1:n.4172C>T
ENST00000683336.1:c.2396C>T	ENSP00000507695.1:n.2396C>T
ENST00000683362.1:c.2236C>T	ENSP00000506985.1:p.Leu746=
ENST00000683850.1:n.2498C>T
ENST00000683919.1:c.2505C>T	ENSP00000507617.1:n.2505C>T
ENST00000683953.1:c.2486C>T	ENSP00000508375.1:n.2486C>T
ENST00000684023.1:c.2552C>T	ENSP00000507461.1:n.2552C>T
ENST00000684064.1:c.2266C>T	ENSP00000508192.1:p.Leu756=
ENST00000684089.1:n.4125C>T
ENST00000684149.1:c.*1754C>T	ENSP00000507943.1:n.*1754C>T
ENST00000684343.1:c.772C>T	ENSP00000507591.1:p.Leu258=
ENST00000684416.1:n.2534C>T
ENST00000684540.1:c.2505C>T	ENSP00000507987.1:n.2505C>T
ENST00000453321.8:c.2575C>T MANE Select	ENSP00000389998.3:p.Leu859=
ENST00000323130.7:c.2545C>T	ENSP00000314488.3:p.Leu849=
ENST00000409623.7:c.2332C>T	ENSP00000386966.3:p.Leu778=
ENST00000453321.7:c.2575C>T	ENSP00000389998.3:p.Leu859=
ENST00000474944.5:n.1713C>T
ENST00000519845.5:n.1307C>T
NM_001142301.1:c.2332C>T , LRG_688t2:c.2332C>T	NP_001135773.1:p.Leu778=
NM_153704.5:c.2575C>T , LRG_688t1:c.2575C>T	NP_714915.3:p.Leu859=
NR_024522.1:n.2646C>T
XM_006716686.2:c.2272C>T	XP_006716749.1:p.Leu758=
XM_006716687.2:c.1975C>T	XP_006716750.1:p.Leu659=
XM_011517363.1:c.1693C>T	XP_011515665.1:p.Leu565=
XR_428387.1:n.2633C>T
XR_928360.1:n.2633C>T
XR_928361.1:n.2633C>T
XR_928362.1:n.2633C>T
XM_006716686.4:c.2272C>T	XP_006716749.1:p.Leu758=
XM_011517363.3:c.1693C>T	XP_011515665.1:p.Leu565=
XM_024447326.1:c.1921C>T	XP_024303094.1:p.Leu641=
XR_001745619.2:n.2616C>T
XR_428387.2:n.2616C>T
XR_928360.3:n.2616C>T
XR_928362.3:n.2616C>T
NM_153704.6:c.2575C>T MANE Select	NP_714915.3:p.Leu859=
NR_024522.2:n.2596C>T