Canonical Allele Identifier: CA371687711

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780602-A-C
• MyVariant Identifiers: chr8:g.94792830A>C (hg19) ; chr8:g.93780602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780602A>C , CM000670.2:g.93780602A>C	GRCh38
NC_000008.10:g.94792830A>C , CM000670.1:g.94792830A>C	GRCh37
NC_000008.9:g.94862006A>C	NCBI36
NG_009190.1:g.30759A>C , LRG_688:g.30759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.724A>C	ENSP00000314488.4:p.Asn242His
ENST00000409623.8:c.724A>C	ENSP00000386966.4:p.Asn242His
ENST00000452276.6:c.724A>C	ENSP00000388671.2:p.Asn242His
ENST00000453906.6:c.407-5621A>C	ENSP00000403035.2:n.407-5621A>C
ENST00000520680.2:c.724A>C	ENSP00000428785.2:p.Asn242His
ENST00000521065.2:c.*441A>C	ENSP00000427947.2:n.*441A>C
ENST00000521517.6:c.724A>C	ENSP00000430740.2:p.Asn242His
ENST00000681998.1:c.654A>C	ENSP00000506773.1:n.654A>C
ENST00000682036.1:c.407-5621A>C	ENSP00000508390.1:n.407-5621A>C
ENST00000682577.1:c.654A>C	ENSP00000506963.1:n.654A>C
ENST00000682624.1:c.*298A>C	ENSP00000508343.1:n.*298A>C
ENST00000682700.1:c.724A>C	ENSP00000507627.1:p.Asn242His
ENST00000682744.1:n.262A>C
ENST00000682804.1:n.547A>C
ENST00000682837.1:c.479A>C	ENSP00000507920.1:p.Gln160Pro
ENST00000682935.1:n.2284A>C
ENST00000682984.1:c.385A>C	ENSP00000507209.1:p.Asn129His
ENST00000683078.1:c.479A>C	ENSP00000506796.1:p.Gln160Pro
ENST00000683223.1:c.565A>C	ENSP00000507685.1:n.565A>C
ENST00000683238.1:n.2105A>C
ENST00000683249.1:n.2305A>C
ENST00000683336.1:c.654A>C	ENSP00000507695.1:n.654A>C
ENST00000683362.1:c.385A>C	ENSP00000506985.1:p.Asn129His
ENST00000683850.1:n.647A>C
ENST00000683919.1:c.654A>C	ENSP00000507617.1:n.654A>C
ENST00000683953.1:c.635A>C	ENSP00000508375.1:n.635A>C
ENST00000684023.1:c.858A>C	ENSP00000507461.1:n.858A>C
ENST00000684064.1:c.415A>C	ENSP00000508192.1:p.Asn139His
ENST00000684089.1:n.2274A>C
ENST00000684149.1:c.*60A>C	ENSP00000507943.1:n.*60A>C
ENST00000684416.1:n.683A>C
ENST00000684540.1:c.654A>C	ENSP00000507987.1:n.654A>C
ENST00000453321.8:c.724A>C MANE Select	ENSP00000389998.3:p.Asn242His
ENST00000323130.7:c.694A>C	ENSP00000314488.3:p.Asn232His
ENST00000409623.7:c.481A>C	ENSP00000386966.3:p.Asn161His
ENST00000425545.2:n.171A>C
ENST00000452276.5:c.415A>C	ENSP00000388671.1:p.Asn139His
ENST00000453321.7:c.724A>C	ENSP00000389998.3:p.Asn242His
ENST00000453906.5:c.407-5621A>C	ENSP00000403035.1:n.407-5621A>C
ENST00000474944.5:n.427-5621A>C
ENST00000496213.5:n.189A>C
NM_001142301.1:c.481A>C , LRG_688t2:c.481A>C	NP_001135773.1:p.Asn161His
NM_153704.5:c.724A>C , LRG_688t1:c.724A>C	NP_714915.3:p.Asn242His
NR_024522.1:n.795A>C
XM_006716686.2:c.421A>C	XP_006716749.1:p.Asn141His
XM_006716687.2:c.124A>C	XP_006716750.1:p.Asn42His
XM_011517363.1:c.407-5621A>C	XP_011515665.1:n.407-5621A>C
XR_428387.1:n.782A>C
XR_928360.1:n.782A>C
XR_928361.1:n.782A>C
XR_928362.1:n.782A>C
XM_006716686.4:c.421A>C	XP_006716749.1:p.Asn141His
XM_011517363.3:c.407-5621A>C	XP_011515665.1:n.407-5621A>C
XM_024447326.1:c.70A>C	XP_024303094.1:p.Asn24His
XR_001745619.2:n.765A>C
XR_428387.2:n.765A>C
XR_928360.3:n.765A>C
XR_928362.3:n.765A>C
NM_153704.6:c.724A>C MANE Select	NP_714915.3:p.Asn242His
NR_024522.2:n.745A>C