Canonical Allele Identifier: CA371698975

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821108A>C (hg19) ; chr8:g.93808880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808880A>C , CM000670.2:g.93808880A>C	GRCh38
NC_000008.10:g.94821108A>C , CM000670.1:g.94821108A>C	GRCh37
NC_000008.9:g.94890284A>C	NCBI36
NG_009190.1:g.59037A>C , LRG_688:g.59037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2480A>C	ENSP00000314488.4:p.Asp827Ala
ENST00000409623.8:c.2435A>C	ENSP00000386966.4:p.Asp812Ala
ENST00000452276.6:c.2363A>C	ENSP00000388671.2:p.Asp788Ala
ENST00000453906.6:c.1598A>C	ENSP00000403035.2:p.Asp533Ala
ENST00000518896.2:c.771A>C	ENSP00000507992.1:n.771A>C
ENST00000520680.2:c.2603A>C	ENSP00000428785.2:p.Asp868Ala
ENST00000521517.6:c.2381A>C	ENSP00000430740.2:p.Asp794Ala
ENST00000681998.1:c.2301A>C	ENSP00000506773.1:n.2301A>C
ENST00000682036.1:c.1721A>C	ENSP00000508390.1:p.Asp574Ala
ENST00000682577.1:c.2253A>C	ENSP00000506963.1:n.2253A>C
ENST00000682624.1:c.*2054A>C	ENSP00000508343.1:n.*2054A>C
ENST00000682700.1:c.2480A>C	ENSP00000507627.1:p.Asp827Ala
ENST00000682744.1:n.2018A>C
ENST00000682804.1:n.2303A>C
ENST00000682837.1:c.1969A>C	ENSP00000507920.1:n.1969A>C
ENST00000682935.1:n.4530A>C
ENST00000682984.1:c.2141A>C	ENSP00000507209.1:p.Asp714Ala
ENST00000683078.1:c.2235A>C	ENSP00000506796.1:n.2235A>C
ENST00000683223.1:c.2212A>C	ENSP00000507685.1:n.2212A>C
ENST00000683238.1:n.3704A>C
ENST00000683249.1:n.4077A>C
ENST00000683336.1:c.2301A>C	ENSP00000507695.1:n.2301A>C
ENST00000683362.1:c.2141A>C	ENSP00000506985.1:p.Asp714Ala
ENST00000683850.1:n.2403A>C
ENST00000683919.1:c.2410A>C	ENSP00000507617.1:n.2410A>C
ENST00000683953.1:c.2391A>C	ENSP00000508375.1:n.2391A>C
ENST00000684023.1:c.2457A>C	ENSP00000507461.1:n.2457A>C
ENST00000684064.1:c.2171A>C	ENSP00000508192.1:p.Asp724Ala
ENST00000684089.1:n.4030A>C
ENST00000684149.1:c.*1659A>C	ENSP00000507943.1:n.*1659A>C
ENST00000684343.1:c.677A>C	ENSP00000507591.1:p.Asp226Ala
ENST00000684416.1:n.2439A>C
ENST00000684540.1:c.2410A>C	ENSP00000507987.1:n.2410A>C
ENST00000453321.8:c.2480A>C MANE Select	ENSP00000389998.3:p.Asp827Ala
ENST00000323130.7:c.2450A>C	ENSP00000314488.3:p.Asp817Ala
ENST00000409623.7:c.2237A>C	ENSP00000386966.3:p.Asp746Ala
ENST00000453321.7:c.2480A>C	ENSP00000389998.3:p.Asp827Ala
ENST00000474944.5:n.1618A>C
ENST00000519845.5:n.1212A>C
NM_001142301.1:c.2237A>C , LRG_688t2:c.2237A>C	NP_001135773.1:p.Asp746Ala
NM_153704.5:c.2480A>C , LRG_688t1:c.2480A>C	NP_714915.3:p.Asp827Ala
NR_024522.1:n.2551A>C
XM_006716686.2:c.2177A>C	XP_006716749.1:p.Asp726Ala
XM_006716687.2:c.1880A>C	XP_006716750.1:p.Asp627Ala
XM_011517363.1:c.1598A>C	XP_011515665.1:p.Asp533Ala
XR_428387.1:n.2538A>C
XR_928360.1:n.2538A>C
XR_928361.1:n.2538A>C
XR_928362.1:n.2538A>C
XM_006716686.4:c.2177A>C	XP_006716749.1:p.Asp726Ala
XM_011517363.3:c.1598A>C	XP_011515665.1:p.Asp533Ala
XM_024447326.1:c.1826A>C	XP_024303094.1:p.Asp609Ala
XR_001745619.2:n.2521A>C
XR_428387.2:n.2521A>C
XR_928360.3:n.2521A>C
XR_928362.3:n.2521A>C
NM_153704.6:c.2480A>C MANE Select	NP_714915.3:p.Asp827Ala
NR_024522.2:n.2501A>C