Canonical Allele Identifier: CA857050713

Gene: TMEM67

Linked Data

• dbSNP Id: rs1335904529
• gnomAD v3: 8-93808815-T-C
• gnomAD v4: 8-93808815-T-C
• MyVariant Identifiers: chr8:g.94821043T>C (hg19) ; chr8:g.93808815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808815T>C , CM000670.2:g.93808815T>C	GRCh38
NC_000008.10:g.94821043T>C , CM000670.1:g.94821043T>C	GRCh37
NC_000008.9:g.94890219T>C	NCBI36
NG_009190.1:g.58972T>C , LRG_688:g.58972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2440-25T>C	ENSP00000314488.4:n.2440-25T>C
ENST00000409623.8:c.2395-25T>C	ENSP00000386966.4:n.2395-25T>C
ENST00000452276.6:c.2323-25T>C	ENSP00000388671.2:n.2323-25T>C
ENST00000453906.6:c.1558-25T>C	ENSP00000403035.2:n.1558-25T>C
ENST00000518896.2:c.731-25T>C	ENSP00000507992.1:n.731-25T>C
ENST00000520680.2:c.2563-25T>C	ENSP00000428785.2:n.2563-25T>C
ENST00000521517.6:c.2341-25T>C	ENSP00000430740.2:n.2341-25T>C
ENST00000681998.1:c.2261-25T>C	ENSP00000506773.1:n.2261-25T>C
ENST00000682036.1:c.1681-25T>C	ENSP00000508390.1:n.1681-25T>C
ENST00000682577.1:c.2213-25T>C	ENSP00000506963.1:n.2213-25T>C
ENST00000682624.1:c.*2014-25T>C	ENSP00000508343.1:n.*2014-25T>C
ENST00000682700.1:c.2440-25T>C	ENSP00000507627.1:n.2440-25T>C
ENST00000682744.1:n.1978-25T>C
ENST00000682804.1:n.2263-25T>C
ENST00000682837.1:c.1929-25T>C	ENSP00000507920.1:n.1929-25T>C
ENST00000682935.1:n.4490-25T>C
ENST00000682984.1:c.2101-25T>C	ENSP00000507209.1:n.2101-25T>C
ENST00000683078.1:c.2195-25T>C	ENSP00000506796.1:n.2195-25T>C
ENST00000683223.1:c.2172-25T>C	ENSP00000507685.1:n.2172-25T>C
ENST00000683238.1:n.3664-25T>C
ENST00000683249.1:n.4037-25T>C
ENST00000683336.1:c.2261-25T>C	ENSP00000507695.1:n.2261-25T>C
ENST00000683362.1:c.2101-25T>C	ENSP00000506985.1:n.2101-25T>C
ENST00000683850.1:n.2363-25T>C
ENST00000683919.1:c.2370-25T>C	ENSP00000507617.1:n.2370-25T>C
ENST00000683953.1:c.2351-25T>C	ENSP00000508375.1:n.2351-25T>C
ENST00000684023.1:c.2417-25T>C	ENSP00000507461.1:n.2417-25T>C
ENST00000684064.1:c.2131-25T>C	ENSP00000508192.1:n.2131-25T>C
ENST00000684089.1:n.3990-25T>C
ENST00000684149.1:c.*1619-25T>C	ENSP00000507943.1:n.*1619-25T>C
ENST00000684343.1:c.637-25T>C	ENSP00000507591.1:n.637-25T>C
ENST00000684416.1:n.2399-25T>C
ENST00000684540.1:c.2370-25T>C	ENSP00000507987.1:n.2370-25T>C
ENST00000453321.8:c.2440-25T>C MANE Select	ENSP00000389998.3:n.2440-25T>C
ENST00000323130.7:c.2410-25T>C	ENSP00000314488.3:n.2410-25T>C
ENST00000409623.7:c.2197-25T>C	ENSP00000386966.3:n.2197-25T>C
ENST00000453321.7:c.2440-25T>C	ENSP00000389998.3:n.2440-25T>C
ENST00000474944.5:n.1578-25T>C
ENST00000519845.5:n.1172-25T>C
NM_001142301.1:c.2197-25T>C , LRG_688t2:c.2197-25T>C	NP_001135773.1:n.2197-25T>C
NM_153704.5:c.2440-25T>C , LRG_688t1:c.2440-25T>C	NP_714915.3:n.2440-25T>C
NR_024522.1:n.2511-25T>C
XM_006716686.2:c.2137-25T>C	XP_006716749.1:n.2137-25T>C
XM_006716687.2:c.1840-25T>C	XP_006716750.1:n.1840-25T>C
XM_011517363.1:c.1558-25T>C	XP_011515665.1:n.1558-25T>C
XR_428387.1:n.2498-25T>C
XR_928360.1:n.2498-25T>C
XR_928361.1:n.2498-25T>C
XR_928362.1:n.2498-25T>C
XM_006716686.4:c.2137-25T>C	XP_006716749.1:n.2137-25T>C
XM_011517363.3:c.1558-25T>C	XP_011515665.1:n.1558-25T>C
XM_024447326.1:c.1786-25T>C	XP_024303094.1:n.1786-25T>C
XR_001745619.2:n.2481-25T>C
XR_428387.2:n.2481-25T>C
XR_928360.3:n.2481-25T>C
XR_928362.3:n.2481-25T>C
NM_153704.6:c.2440-25T>C MANE Select	NP_714915.3:n.2440-25T>C
NR_024522.2:n.2461-25T>C