Canonical Allele Identifier: CA1116692356

Gene: TMEM67

Linked Data

• dbSNP Id: rs1813032621
• gnomAD v3: 8-93765337-G-C
• gnomAD v4: 8-93765337-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93765337G>C , CM000670.2:g.93765337G>C	GRCh38
NC_000008.10:g.94777565G>C , CM000670.1:g.94777565G>C	GRCh37
NC_000008.9:g.94846741G>C	NCBI36
NG_009190.1:g.15494G>C , LRG_688:g.15494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.507-69G>C	ENSP00000314488.4:n.507-69G>C
ENST00000409623.8:c.507-69G>C	ENSP00000386966.4:n.507-69G>C
ENST00000452276.6:c.507-69G>C	ENSP00000388671.2:n.507-69G>C
ENST00000453906.6:c.406+6761G>C	ENSP00000403035.2:n.406+6761G>C
ENST00000520680.2:c.507-69G>C	ENSP00000428785.2:n.507-69G>C
ENST00000521065.2:c.*224-69G>C	ENSP00000427947.2:n.*224-69G>C
ENST00000521517.6:c.507-69G>C	ENSP00000430740.2:n.507-69G>C
ENST00000681998.1:c.507-235G>C	ENSP00000506773.1:n.507-235G>C
ENST00000682036.1:c.406+6761G>C	ENSP00000508390.1:n.406+6761G>C
ENST00000682577.1:c.507-235G>C	ENSP00000506963.1:n.507-235G>C
ENST00000682624.1:c.*151-235G>C	ENSP00000508343.1:n.*151-235G>C
ENST00000682700.1:c.507-69G>C	ENSP00000507627.1:n.507-69G>C
ENST00000682804.1:n.400-235G>C
ENST00000682837.1:c.406+6761G>C	ENSP00000507920.1:n.406+6761G>C
ENST00000682935.1:n.1902G>C
ENST00000682984.1:c.313-7252G>C	ENSP00000507209.1:n.313-7252G>C
ENST00000683078.1:c.406+6761G>C	ENSP00000506796.1:n.406+6761G>C
ENST00000683223.1:c.418-235G>C	ENSP00000507685.1:n.418-235G>C
ENST00000683238.1:n.1723G>C
ENST00000683249.1:n.1923G>C
ENST00000683336.1:c.507-235G>C	ENSP00000507695.1:n.507-235G>C
ENST00000683362.1:c.313-7252G>C	ENSP00000506985.1:n.313-7252G>C
ENST00000683850.1:n.430-69G>C
ENST00000683919.1:c.507-235G>C	ENSP00000507617.1:n.507-235G>C
ENST00000683953.1:c.418-69G>C	ENSP00000508375.1:n.418-69G>C
ENST00000684023.1:c.641-69G>C	ENSP00000507461.1:n.641-69G>C
ENST00000684064.1:c.198-69G>C	ENSP00000508192.1:n.198-69G>C
ENST00000684089.1:n.1892G>C
ENST00000684149.1:c.507-235G>C	ENSP00000507943.1:n.507-235G>C
ENST00000684416.1:n.466-69G>C
ENST00000684540.1:c.507-235G>C	ENSP00000507987.1:n.507-235G>C
ENST00000453321.8:c.507-69G>C MANE Select	ENSP00000389998.3:n.507-69G>C
ENST00000323130.7:c.477-69G>C	ENSP00000314488.3:n.477-69G>C
ENST00000409623.7:c.264-69G>C	ENSP00000386966.3:n.264-69G>C
ENST00000452276.5:c.198-69G>C	ENSP00000388671.1:n.198-69G>C
ENST00000453321.7:c.507-69G>C	ENSP00000389998.3:n.507-69G>C
ENST00000453906.5:c.406+6761G>C	ENSP00000403035.1:n.406+6761G>C
ENST00000455946.5:c.*179-69G>C	ENSP00000416339.1:n.*179-69G>C
ENST00000474944.5:n.426+6761G>C
ENST00000518319.5:c.27-69G>C	ENSP00000430289.1:n.27-69G>C
ENST00000521065.1:c.413-69G>C
ENST00000521222.5:c.*143-69G>C	ENSP00000429925.1:n.*143-69G>C
ENST00000521517.5:c.499-235G>C
NM_001142301.1:c.264-69G>C , LRG_688t2:c.264-69G>C	NP_001135773.1:n.264-69G>C
NM_153704.5:c.507-69G>C , LRG_688t1:c.507-69G>C	NP_714915.3:n.507-69G>C
NR_024522.1:n.578-69G>C
XM_006716686.2:c.204-69G>C	XP_006716749.1:n.204-69G>C
XM_011517363.1:c.406+6761G>C	XP_011515665.1:n.406+6761G>C
XR_428387.1:n.565-69G>C
XR_928360.1:n.565-69G>C
XR_928361.1:n.565-69G>C
XR_928362.1:n.565-69G>C
XM_006716686.4:c.204-69G>C	XP_006716749.1:n.204-69G>C
XM_011517363.3:c.406+6761G>C	XP_011515665.1:n.406+6761G>C
XM_024447326.1:c.-4+6761G>C	XP_024303094.1:n.-4+6761G>C
XR_001745619.2:n.548-69G>C
XR_428387.2:n.548-69G>C
XR_928360.3:n.548-69G>C
XR_928362.3:n.548-69G>C
NM_153704.6:c.507-69G>C MANE Select	NP_714915.3:n.507-69G>C
NR_024522.2:n.528-69G>C