Canonical Allele Identifier: CA461867414

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808872-C-T
• MyVariant Identifiers: chr8:g.94821100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808872C>T , CM000670.2:g.93808872C>T	GRCh38
NC_000008.10:g.94821100C>T , CM000670.1:g.94821100C>T	GRCh37
NC_000008.9:g.94890276C>T	NCBI36
NG_009190.1:g.59029C>T , LRG_688:g.59029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2472C>T	ENSP00000314488.4:p.Pro824=
ENST00000409623.8:c.2427C>T	ENSP00000386966.4:p.Pro809=
ENST00000452276.6:c.2355C>T	ENSP00000388671.2:p.Pro785=
ENST00000453906.6:c.1590C>T	ENSP00000403035.2:p.Pro530=
ENST00000518896.2:c.763C>T	ENSP00000507992.1:n.763C>T
ENST00000520680.2:c.2595C>T	ENSP00000428785.2:p.Pro865=
ENST00000521517.6:c.2373C>T	ENSP00000430740.2:p.Pro791=
ENST00000681998.1:c.2293C>T	ENSP00000506773.1:n.2293C>T
ENST00000682036.1:c.1713C>T	ENSP00000508390.1:p.Pro571=
ENST00000682577.1:c.2245C>T	ENSP00000506963.1:n.2245C>T
ENST00000682624.1:c.*2046C>T	ENSP00000508343.1:n.*2046C>T
ENST00000682700.1:c.2472C>T	ENSP00000507627.1:p.Pro824=
ENST00000682744.1:n.2010C>T
ENST00000682804.1:n.2295C>T
ENST00000682837.1:c.1961C>T	ENSP00000507920.1:n.1961C>T
ENST00000682935.1:n.4522C>T
ENST00000682984.1:c.2133C>T	ENSP00000507209.1:p.Pro711=
ENST00000683078.1:c.2227C>T	ENSP00000506796.1:n.2227C>T
ENST00000683223.1:c.2204C>T	ENSP00000507685.1:n.2204C>T
ENST00000683238.1:n.3696C>T
ENST00000683249.1:n.4069C>T
ENST00000683336.1:c.2293C>T	ENSP00000507695.1:n.2293C>T
ENST00000683362.1:c.2133C>T	ENSP00000506985.1:p.Pro711=
ENST00000683850.1:n.2395C>T
ENST00000683919.1:c.2402C>T	ENSP00000507617.1:n.2402C>T
ENST00000683953.1:c.2383C>T	ENSP00000508375.1:n.2383C>T
ENST00000684023.1:c.2449C>T	ENSP00000507461.1:n.2449C>T
ENST00000684064.1:c.2163C>T	ENSP00000508192.1:p.Pro721=
ENST00000684089.1:n.4022C>T
ENST00000684149.1:c.*1651C>T	ENSP00000507943.1:n.*1651C>T
ENST00000684343.1:c.669C>T	ENSP00000507591.1:p.Pro223=
ENST00000684416.1:n.2431C>T
ENST00000684540.1:c.2402C>T	ENSP00000507987.1:n.2402C>T
ENST00000453321.8:c.2472C>T MANE Select	ENSP00000389998.3:p.Pro824=
ENST00000323130.7:c.2442C>T	ENSP00000314488.3:p.Pro814=
ENST00000409623.7:c.2229C>T	ENSP00000386966.3:p.Pro743=
ENST00000453321.7:c.2472C>T	ENSP00000389998.3:p.Pro824=
ENST00000474944.5:n.1610C>T
ENST00000519845.5:n.1204C>T
NM_001142301.1:c.2229C>T , LRG_688t2:c.2229C>T	NP_001135773.1:p.Pro743=
NM_153704.5:c.2472C>T , LRG_688t1:c.2472C>T	NP_714915.3:p.Pro824=
NR_024522.1:n.2543C>T
XM_006716686.2:c.2169C>T	XP_006716749.1:p.Pro723=
XM_006716687.2:c.1872C>T	XP_006716750.1:p.Pro624=
XM_011517363.1:c.1590C>T	XP_011515665.1:p.Pro530=
XR_428387.1:n.2530C>T
XR_928360.1:n.2530C>T
XR_928361.1:n.2530C>T
XR_928362.1:n.2530C>T
XM_006716686.4:c.2169C>T	XP_006716749.1:p.Pro723=
XM_011517363.3:c.1590C>T	XP_011515665.1:p.Pro530=
XM_024447326.1:c.1818C>T	XP_024303094.1:p.Pro606=
XR_001745619.2:n.2513C>T
XR_428387.2:n.2513C>T
XR_928360.3:n.2513C>T
XR_928362.3:n.2513C>T
NM_153704.6:c.2472C>T MANE Select	NP_714915.3:p.Pro824=
NR_024522.2:n.2493C>T