Canonical Allele Identifier: CA583844327

Gene: TMEM67

Linked Data

• dbSNP Id: rs1482902975
• gnomAD v2: 8-94793009-G-A
• gnomAD v3: 8-93780781-G-A
• gnomAD v4: 8-93780781-G-A
• MyVariant Identifiers: chr8:g.94793009G>A (hg19) ; chr8:g.93780781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780781G>A , CM000670.2:g.93780781G>A	GRCh38
NC_000008.10:g.94793009G>A , CM000670.1:g.94793009G>A	GRCh37
NC_000008.9:g.94862185G>A	NCBI36
NG_009190.1:g.30938G>A , LRG_688:g.30938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+34G>A	ENSP00000314488.4:n.869+34G>A
ENST00000409623.8:c.869+34G>A	ENSP00000386966.4:n.869+34G>A
ENST00000452276.6:c.869+34G>A	ENSP00000388671.2:n.869+34G>A
ENST00000453906.6:c.407-5442G>A	ENSP00000403035.2:n.407-5442G>A
ENST00000520680.2:c.869+34G>A	ENSP00000428785.2:n.869+34G>A
ENST00000521065.2:c.*586+34G>A	ENSP00000427947.2:n.*586+34G>A
ENST00000521517.6:c.869+34G>A	ENSP00000430740.2:n.869+34G>A
ENST00000681998.1:c.799+34G>A	ENSP00000506773.1:n.799+34G>A
ENST00000682036.1:c.407-5442G>A	ENSP00000508390.1:n.407-5442G>A
ENST00000682577.1:c.799+34G>A	ENSP00000506963.1:n.799+34G>A
ENST00000682624.1:c.*443+34G>A	ENSP00000508343.1:n.*443+34G>A
ENST00000682700.1:c.869+34G>A	ENSP00000507627.1:n.869+34G>A
ENST00000682744.1:n.407+34G>A
ENST00000682804.1:n.692+34G>A
ENST00000682837.1:c.624+34G>A	ENSP00000507920.1:n.624+34G>A
ENST00000682935.1:n.2429+34G>A
ENST00000682984.1:c.530+34G>A	ENSP00000507209.1:n.530+34G>A
ENST00000683078.1:c.624+34G>A	ENSP00000506796.1:n.624+34G>A
ENST00000683223.1:c.710+34G>A	ENSP00000507685.1:n.710+34G>A
ENST00000683238.1:n.2250+34G>A
ENST00000683249.1:n.2450+34G>A
ENST00000683336.1:c.799+34G>A	ENSP00000507695.1:n.799+34G>A
ENST00000683362.1:c.530+34G>A	ENSP00000506985.1:n.530+34G>A
ENST00000683850.1:n.792+34G>A
ENST00000683919.1:c.799+34G>A	ENSP00000507617.1:n.799+34G>A
ENST00000683953.1:c.780+34G>A	ENSP00000508375.1:n.780+34G>A
ENST00000684023.1:c.1003+34G>A	ENSP00000507461.1:n.1003+34G>A
ENST00000684064.1:c.560+34G>A	ENSP00000508192.1:n.560+34G>A
ENST00000684089.1:n.2419+34G>A
ENST00000684149.1:c.*205+34G>A	ENSP00000507943.1:n.*205+34G>A
ENST00000684416.1:n.828+34G>A
ENST00000684540.1:c.799+34G>A	ENSP00000507987.1:n.799+34G>A
ENST00000453321.8:c.869+34G>A MANE Select	ENSP00000389998.3:n.869+34G>A
ENST00000323130.7:c.839+34G>A	ENSP00000314488.3:n.839+34G>A
ENST00000409623.7:c.626+34G>A	ENSP00000386966.3:n.626+34G>A
ENST00000425545.2:n.316+34G>A
ENST00000452276.5:c.560+34G>A	ENSP00000388671.1:n.560+34G>A
ENST00000453321.7:c.869+34G>A	ENSP00000389998.3:n.869+34G>A
ENST00000453906.5:c.407-5442G>A	ENSP00000403035.1:n.407-5442G>A
ENST00000474944.5:n.427-5442G>A
ENST00000496213.5:n.334+34G>A
NM_001142301.1:c.626+34G>A , LRG_688t2:c.626+34G>A	NP_001135773.1:n.626+34G>A
NM_153704.5:c.869+34G>A , LRG_688t1:c.869+34G>A	NP_714915.3:n.869+34G>A
NR_024522.1:n.940+34G>A
XM_006716686.2:c.566+34G>A	XP_006716749.1:n.566+34G>A
XM_006716687.2:c.269+34G>A	XP_006716750.1:n.269+34G>A
XM_011517363.1:c.407-5442G>A	XP_011515665.1:n.407-5442G>A
XR_428387.1:n.927+34G>A
XR_928360.1:n.927+34G>A
XR_928361.1:n.927+34G>A
XR_928362.1:n.927+34G>A
XM_006716686.4:c.566+34G>A	XP_006716749.1:n.566+34G>A
XM_011517363.3:c.407-5442G>A	XP_011515665.1:n.407-5442G>A
XM_024447326.1:c.215+34G>A	XP_024303094.1:n.215+34G>A
XR_001745619.2:n.910+34G>A
XR_428387.2:n.910+34G>A
XR_928360.3:n.910+34G>A
XR_928362.3:n.910+34G>A
NM_153704.6:c.869+34G>A MANE Select	NP_714915.3:n.869+34G>A
NR_024522.2:n.890+34G>A