Canonical Allele Identifier: CA371699206

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94821307T>A (hg19) ; chr8:g.93809079T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809079T>A , CM000670.2:g.93809079T>A	GRCh38
NC_000008.10:g.94821307T>A , CM000670.1:g.94821307T>A	GRCh37
NC_000008.9:g.94890483T>A	NCBI36
NG_009190.1:g.59236T>A , LRG_688:g.59236T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.2579T>A	ENSP00000314488.4:p.Leu860Gln
ENST00000409623.8:c.2534T>A	ENSP00000386966.4:p.Leu845Gln
ENST00000452276.6:c.2462T>A	ENSP00000388671.2:p.Leu821Gln
ENST00000453906.6:c.1697T>A	ENSP00000403035.2:p.Leu566Gln
ENST00000518896.2:c.870T>A	ENSP00000507992.1:n.870T>A
ENST00000520680.2:c.2702T>A	ENSP00000428785.2:p.Leu901Gln
ENST00000521517.6:c.2480T>A	ENSP00000430740.2:p.Leu827Gln
ENST00000681998.1:c.2400T>A	ENSP00000506773.1:n.2400T>A
ENST00000682036.1:c.1820T>A	ENSP00000508390.1:p.Leu607Gln
ENST00000682577.1:c.2352T>A	ENSP00000506963.1:n.2352T>A
ENST00000682624.1:c.*2153T>A	ENSP00000508343.1:n.*2153T>A
ENST00000682700.1:c.2579T>A	ENSP00000507627.1:p.Leu860Gln
ENST00000682744.1:n.2117T>A
ENST00000682804.1:n.2402T>A
ENST00000682837.1:c.2068T>A	ENSP00000507920.1:n.2068T>A
ENST00000682935.1:n.4629T>A
ENST00000682984.1:c.2240T>A	ENSP00000507209.1:p.Leu747Gln
ENST00000683078.1:c.2334T>A	ENSP00000506796.1:n.2334T>A
ENST00000683223.1:c.2311T>A	ENSP00000507685.1:n.2311T>A
ENST00000683238.1:n.3803T>A
ENST00000683249.1:n.4176T>A
ENST00000683336.1:c.2400T>A	ENSP00000507695.1:n.2400T>A
ENST00000683362.1:c.2240T>A	ENSP00000506985.1:p.Leu747Gln
ENST00000683850.1:n.2502T>A
ENST00000683919.1:c.2509T>A	ENSP00000507617.1:n.2509T>A
ENST00000683953.1:c.2490T>A	ENSP00000508375.1:n.2490T>A
ENST00000684023.1:c.2556T>A	ENSP00000507461.1:n.2556T>A
ENST00000684064.1:c.2270T>A	ENSP00000508192.1:p.Leu757Gln
ENST00000684089.1:n.4129T>A
ENST00000684149.1:c.*1758T>A	ENSP00000507943.1:n.*1758T>A
ENST00000684343.1:c.776T>A	ENSP00000507591.1:p.Leu259Gln
ENST00000684416.1:n.2538T>A
ENST00000684540.1:c.2509T>A	ENSP00000507987.1:n.2509T>A
ENST00000453321.8:c.2579T>A MANE Select	ENSP00000389998.3:p.Leu860Gln
ENST00000323130.7:c.2549T>A	ENSP00000314488.3:p.Leu850Gln
ENST00000409623.7:c.2336T>A	ENSP00000386966.3:p.Leu779Gln
ENST00000453321.7:c.2579T>A	ENSP00000389998.3:p.Leu860Gln
ENST00000474944.5:n.1717T>A
ENST00000519845.5:n.1311T>A
NM_001142301.1:c.2336T>A , LRG_688t2:c.2336T>A	NP_001135773.1:p.Leu779Gln
NM_153704.5:c.2579T>A , LRG_688t1:c.2579T>A	NP_714915.3:p.Leu860Gln
NR_024522.1:n.2650T>A
XM_006716686.2:c.2276T>A	XP_006716749.1:p.Leu759Gln
XM_006716687.2:c.1979T>A	XP_006716750.1:p.Leu660Gln
XM_011517363.1:c.1697T>A	XP_011515665.1:p.Leu566Gln
XR_428387.1:n.2637T>A
XR_928360.1:n.2637T>A
XR_928361.1:n.2637T>A
XR_928362.1:n.2637T>A
XM_006716686.4:c.2276T>A	XP_006716749.1:p.Leu759Gln
XM_011517363.3:c.1697T>A	XP_011515665.1:p.Leu566Gln
XM_024447326.1:c.1925T>A	XP_024303094.1:p.Leu642Gln
XR_001745619.2:n.2620T>A
XR_428387.2:n.2620T>A
XR_928360.3:n.2620T>A
XR_928362.3:n.2620T>A
NM_153704.6:c.2579T>A MANE Select	NP_714915.3:p.Leu860Gln
NR_024522.2:n.2600T>A