Canonical Allele Identifier: CA583415249

Gene: TMEM67

Linked Data

• dbSNP Id: rs1319824675
• gnomAD v2: 8-94821256-T-G
• gnomAD v3: 8-93809028-T-G
• gnomAD v4: 8-93809028-T-G
• MyVariant Identifiers: chr8:g.94821256T>G (hg19) ; chr8:g.93809028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809028T>G , CM000670.2:g.93809028T>G	GRCh38
NC_000008.10:g.94821256T>G , CM000670.1:g.94821256T>G	GRCh37
NC_000008.9:g.94890432T>G	NCBI36
NG_009190.1:g.59185T>G , LRG_688:g.59185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2557-29T>G	ENSP00000314488.4:n.2557-29T>G
ENST00000409623.8:c.2512-29T>G	ENSP00000386966.4:n.2512-29T>G
ENST00000452276.6:c.2440-29T>G	ENSP00000388671.2:n.2440-29T>G
ENST00000453906.6:c.1675-29T>G	ENSP00000403035.2:n.1675-29T>G
ENST00000518896.2:c.848-29T>G	ENSP00000507992.1:n.848-29T>G
ENST00000520680.2:c.2680-29T>G	ENSP00000428785.2:n.2680-29T>G
ENST00000521517.6:c.2458-29T>G	ENSP00000430740.2:n.2458-29T>G
ENST00000681998.1:c.2378-29T>G	ENSP00000506773.1:n.2378-29T>G
ENST00000682036.1:c.1798-29T>G	ENSP00000508390.1:n.1798-29T>G
ENST00000682577.1:c.2330-29T>G	ENSP00000506963.1:n.2330-29T>G
ENST00000682624.1:c.*2131-29T>G	ENSP00000508343.1:n.*2131-29T>G
ENST00000682700.1:c.2557-29T>G	ENSP00000507627.1:n.2557-29T>G
ENST00000682744.1:n.2095-29T>G
ENST00000682804.1:n.2380-29T>G
ENST00000682837.1:c.2046-29T>G	ENSP00000507920.1:n.2046-29T>G
ENST00000682935.1:n.4607-29T>G
ENST00000682984.1:c.2218-29T>G	ENSP00000507209.1:n.2218-29T>G
ENST00000683078.1:c.2312-29T>G	ENSP00000506796.1:n.2312-29T>G
ENST00000683223.1:c.2289-29T>G	ENSP00000507685.1:n.2289-29T>G
ENST00000683238.1:n.3781-29T>G
ENST00000683249.1:n.4154-29T>G
ENST00000683336.1:c.2378-29T>G	ENSP00000507695.1:n.2378-29T>G
ENST00000683362.1:c.2218-29T>G	ENSP00000506985.1:n.2218-29T>G
ENST00000683850.1:n.2480-29T>G
ENST00000683919.1:c.2487-29T>G	ENSP00000507617.1:n.2487-29T>G
ENST00000683953.1:c.2468-29T>G	ENSP00000508375.1:n.2468-29T>G
ENST00000684023.1:c.2534-29T>G	ENSP00000507461.1:n.2534-29T>G
ENST00000684064.1:c.2248-29T>G	ENSP00000508192.1:n.2248-29T>G
ENST00000684089.1:n.4107-29T>G
ENST00000684149.1:c.*1736-29T>G	ENSP00000507943.1:n.*1736-29T>G
ENST00000684343.1:c.754-29T>G	ENSP00000507591.1:n.754-29T>G
ENST00000684416.1:n.2516-29T>G
ENST00000684540.1:c.2487-29T>G	ENSP00000507987.1:n.2487-29T>G
ENST00000453321.8:c.2557-29T>G MANE Select	ENSP00000389998.3:n.2557-29T>G
ENST00000323130.7:c.2527-29T>G	ENSP00000314488.3:n.2527-29T>G
ENST00000409623.7:c.2314-29T>G	ENSP00000386966.3:n.2314-29T>G
ENST00000453321.7:c.2557-29T>G	ENSP00000389998.3:n.2557-29T>G
ENST00000474944.5:n.1695-29T>G
ENST00000519845.5:n.1289-29T>G
NM_001142301.1:c.2314-29T>G , LRG_688t2:c.2314-29T>G	NP_001135773.1:n.2314-29T>G
NM_153704.5:c.2557-29T>G , LRG_688t1:c.2557-29T>G	NP_714915.3:n.2557-29T>G
NR_024522.1:n.2628-29T>G
XM_006716686.2:c.2254-29T>G	XP_006716749.1:n.2254-29T>G
XM_006716687.2:c.1957-29T>G	XP_006716750.1:n.1957-29T>G
XM_011517363.1:c.1675-29T>G	XP_011515665.1:n.1675-29T>G
XR_428387.1:n.2615-29T>G
XR_928360.1:n.2615-29T>G
XR_928361.1:n.2615-29T>G
XR_928362.1:n.2615-29T>G
XM_006716686.4:c.2254-29T>G	XP_006716749.1:n.2254-29T>G
XM_011517363.3:c.1675-29T>G	XP_011515665.1:n.1675-29T>G
XM_024447326.1:c.1903-29T>G	XP_024303094.1:n.1903-29T>G
XR_001745619.2:n.2598-29T>G
XR_428387.2:n.2598-29T>G
XR_928360.3:n.2598-29T>G
XR_928362.3:n.2598-29T>G
NM_153704.6:c.2557-29T>G MANE Select	NP_714915.3:n.2557-29T>G
NR_024522.2:n.2578-29T>G