Canonical Allele Identifier: CA371687811

Gene: TMEM67

Linked Data

• dbSNP Id: rs1813776988
• gnomAD v4: 8-93780649-G-A
• COSMIC: COSM3835144 ; COSM3835145 ; COSM3835146
• MyVariant Identifiers: chr8:g.94792877G>A (hg19) ; chr8:g.93780649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780649G>A , CM000670.2:g.93780649G>A	GRCh38
NC_000008.10:g.94792877G>A , CM000670.1:g.94792877G>A	GRCh37
NC_000008.9:g.94862053G>A	NCBI36
NG_009190.1:g.30806G>A , LRG_688:g.30806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.771G>A	ENSP00000314488.4:p.Met257Ile
ENST00000409623.8:c.771G>A	ENSP00000386966.4:p.Met257Ile
ENST00000452276.6:c.771G>A	ENSP00000388671.2:p.Met257Ile
ENST00000453906.6:c.407-5574G>A	ENSP00000403035.2:n.407-5574G>A
ENST00000520680.2:c.771G>A	ENSP00000428785.2:p.Met257Ile
ENST00000521065.2:c.*488G>A	ENSP00000427947.2:n.*488G>A
ENST00000521517.6:c.771G>A	ENSP00000430740.2:p.Met257Ile
ENST00000681998.1:c.701G>A	ENSP00000506773.1:n.701G>A
ENST00000682036.1:c.407-5574G>A	ENSP00000508390.1:n.407-5574G>A
ENST00000682577.1:c.701G>A	ENSP00000506963.1:n.701G>A
ENST00000682624.1:c.*345G>A	ENSP00000508343.1:n.*345G>A
ENST00000682700.1:c.771G>A	ENSP00000507627.1:p.Met257Ile
ENST00000682744.1:n.309G>A
ENST00000682804.1:n.594G>A
ENST00000682837.1:c.526G>A	ENSP00000507920.1:p.Glu176Lys
ENST00000682935.1:n.2331G>A
ENST00000682984.1:c.432G>A	ENSP00000507209.1:p.Met144Ile
ENST00000683078.1:c.526G>A	ENSP00000506796.1:p.Glu176Lys
ENST00000683223.1:c.612G>A	ENSP00000507685.1:n.612G>A
ENST00000683238.1:n.2152G>A
ENST00000683249.1:n.2352G>A
ENST00000683336.1:c.701G>A	ENSP00000507695.1:n.701G>A
ENST00000683362.1:c.432G>A	ENSP00000506985.1:p.Met144Ile
ENST00000683850.1:n.694G>A
ENST00000683919.1:c.701G>A	ENSP00000507617.1:n.701G>A
ENST00000683953.1:c.682G>A	ENSP00000508375.1:n.682G>A
ENST00000684023.1:c.905G>A	ENSP00000507461.1:n.905G>A
ENST00000684064.1:c.462G>A	ENSP00000508192.1:p.Met154Ile
ENST00000684089.1:n.2321G>A
ENST00000684149.1:c.*107G>A	ENSP00000507943.1:n.*107G>A
ENST00000684416.1:n.730G>A
ENST00000684540.1:c.701G>A	ENSP00000507987.1:n.701G>A
ENST00000453321.8:c.771G>A MANE Select	ENSP00000389998.3:p.Met257Ile
ENST00000323130.7:c.741G>A	ENSP00000314488.3:p.Met247Ile
ENST00000409623.7:c.528G>A	ENSP00000386966.3:p.Met176Ile
ENST00000425545.2:n.218G>A
ENST00000452276.5:c.462G>A	ENSP00000388671.1:p.Met154Ile
ENST00000453321.7:c.771G>A	ENSP00000389998.3:p.Met257Ile
ENST00000453906.5:c.407-5574G>A	ENSP00000403035.1:n.407-5574G>A
ENST00000474944.5:n.427-5574G>A
ENST00000496213.5:n.236G>A
NM_001142301.1:c.528G>A , LRG_688t2:c.528G>A	NP_001135773.1:p.Met176Ile
NM_153704.5:c.771G>A , LRG_688t1:c.771G>A	NP_714915.3:p.Met257Ile
NR_024522.1:n.842G>A
XM_006716686.2:c.468G>A	XP_006716749.1:p.Met156Ile
XM_006716687.2:c.171G>A	XP_006716750.1:p.Met57Ile
XM_011517363.1:c.407-5574G>A	XP_011515665.1:n.407-5574G>A
XR_428387.1:n.829G>A
XR_928360.1:n.829G>A
XR_928361.1:n.829G>A
XR_928362.1:n.829G>A
XM_006716686.4:c.468G>A	XP_006716749.1:p.Met156Ile
XM_011517363.3:c.407-5574G>A	XP_011515665.1:n.407-5574G>A
XM_024447326.1:c.117G>A	XP_024303094.1:p.Met39Ile
XR_001745619.2:n.812G>A
XR_428387.2:n.812G>A
XR_928360.3:n.812G>A
XR_928362.3:n.812G>A
NM_153704.6:c.771G>A MANE Select	NP_714915.3:p.Met257Ile
NR_024522.2:n.792G>A