Canonical Allele Identifier: CA2687923129

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93809167-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809167T>C , CM000670.2:g.93809167T>C	GRCh38
NC_000008.10:g.94821395T>C , CM000670.1:g.94821395T>C	GRCh37
NC_000008.9:g.94890571T>C	NCBI36
NG_009190.1:g.59324T>C , LRG_688:g.59324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2661+6T>C	ENSP00000314488.4:n.2661+6T>C
ENST00000409623.8:c.2616+6T>C	ENSP00000386966.4:n.2616+6T>C
ENST00000452276.6:c.2544+6T>C	ENSP00000388671.2:n.2544+6T>C
ENST00000453906.6:c.1779+6T>C	ENSP00000403035.2:n.1779+6T>C
ENST00000518896.2:c.952+6T>C	ENSP00000507992.1:n.952+6T>C
ENST00000520680.2:c.2784+6T>C	ENSP00000428785.2:n.2784+6T>C
ENST00000521517.6:c.2562+6T>C	ENSP00000430740.2:n.2562+6T>C
ENST00000681998.1:c.2482+6T>C	ENSP00000506773.1:n.2482+6T>C
ENST00000682036.1:c.1902+6T>C	ENSP00000508390.1:n.1902+6T>C
ENST00000682577.1:c.2434+6T>C	ENSP00000506963.1:n.2434+6T>C
ENST00000682624.1:c.*2235+6T>C	ENSP00000508343.1:n.*2235+6T>C
ENST00000682700.1:c.2661+6T>C	ENSP00000507627.1:n.2661+6T>C
ENST00000682744.1:n.2199+6T>C
ENST00000682804.1:n.2484+6T>C
ENST00000682837.1:c.2150+6T>C	ENSP00000507920.1:n.2150+6T>C
ENST00000682935.1:n.4711+6T>C
ENST00000682984.1:c.2322+6T>C	ENSP00000507209.1:n.2322+6T>C
ENST00000683078.1:c.2416+6T>C	ENSP00000506796.1:n.2416+6T>C
ENST00000683223.1:c.2393+6T>C	ENSP00000507685.1:n.2393+6T>C
ENST00000683238.1:n.3885+6T>C
ENST00000683249.1:n.4258+6T>C
ENST00000683336.1:c.2482+6T>C	ENSP00000507695.1:n.2482+6T>C
ENST00000683362.1:c.2322+6T>C	ENSP00000506985.1:n.2322+6T>C
ENST00000683850.1:n.2590T>C
ENST00000683919.1:c.2591+6T>C	ENSP00000507617.1:n.2591+6T>C
ENST00000683953.1:c.2572+6T>C	ENSP00000508375.1:n.2572+6T>C
ENST00000684023.1:c.2638+6T>C	ENSP00000507461.1:n.2638+6T>C
ENST00000684064.1:c.2352+6T>C	ENSP00000508192.1:n.2352+6T>C
ENST00000684089.1:n.4211+6T>C
ENST00000684149.1:c.*1840+6T>C	ENSP00000507943.1:n.*1840+6T>C
ENST00000684343.1:c.858+6T>C	ENSP00000507591.1:n.858+6T>C
ENST00000684416.1:n.2620+6T>C
ENST00000684540.1:c.2591+6T>C	ENSP00000507987.1:n.2591+6T>C
ENST00000453321.8:c.2661+6T>C MANE Select	ENSP00000389998.3:n.2661+6T>C
ENST00000323130.7:c.2631+6T>C	ENSP00000314488.3:n.2631+6T>C
ENST00000409623.7:c.2418+6T>C	ENSP00000386966.3:n.2418+6T>C
ENST00000453321.7:c.2661+6T>C	ENSP00000389998.3:n.2661+6T>C
ENST00000474944.5:n.1799+6T>C
ENST00000519845.5:n.1393+6T>C
NM_001142301.1:c.2418+6T>C , LRG_688t2:c.2418+6T>C	NP_001135773.1:n.2418+6T>C
NM_153704.5:c.2661+6T>C , LRG_688t1:c.2661+6T>C	NP_714915.3:n.2661+6T>C
NR_024522.1:n.2732+6T>C
XM_006716686.2:c.2358+6T>C	XP_006716749.1:n.2358+6T>C
XM_006716687.2:c.2061+6T>C	XP_006716750.1:n.2061+6T>C
XM_011517363.1:c.1779+6T>C	XP_011515665.1:n.1779+6T>C
XR_428387.1:n.2719+6T>C
XR_928360.1:n.2719+6T>C
XR_928361.1:n.2719+6T>C
XR_928362.1:n.2719+6T>C
XM_006716686.4:c.2358+6T>C	XP_006716749.1:n.2358+6T>C
XM_011517363.3:c.1779+6T>C	XP_011515665.1:n.1779+6T>C
XM_024447326.1:c.2007+6T>C	XP_024303094.1:n.2007+6T>C
XR_001745619.2:n.2702+6T>C
XR_428387.2:n.2702+6T>C
XR_928360.3:n.2702+6T>C
XR_928362.3:n.2702+6T>C
NM_153704.6:c.2661+6T>C MANE Select	NP_714915.3:n.2661+6T>C
NR_024522.2:n.2682+6T>C