Canonical Allele Identifier: CA371699010

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808892-T-C
• MyVariant Identifiers: chr8:g.94821120T>C (hg19) ; chr8:g.93808892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808892T>C , CM000670.2:g.93808892T>C	GRCh38
NC_000008.10:g.94821120T>C , CM000670.1:g.94821120T>C	GRCh37
NC_000008.9:g.94890296T>C	NCBI36
NG_009190.1:g.59049T>C , LRG_688:g.59049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2492T>C	ENSP00000314488.4:p.Phe831Ser
ENST00000409623.8:c.2447T>C	ENSP00000386966.4:p.Phe816Ser
ENST00000452276.6:c.2375T>C	ENSP00000388671.2:p.Phe792Ser
ENST00000453906.6:c.1610T>C	ENSP00000403035.2:p.Phe537Ser
ENST00000518896.2:c.783T>C	ENSP00000507992.1:n.783T>C
ENST00000520680.2:c.2615T>C	ENSP00000428785.2:p.Phe872Ser
ENST00000521517.6:c.2393T>C	ENSP00000430740.2:p.Phe798Ser
ENST00000681998.1:c.2313T>C	ENSP00000506773.1:n.2313T>C
ENST00000682036.1:c.1733T>C	ENSP00000508390.1:p.Phe578Ser
ENST00000682577.1:c.2265T>C	ENSP00000506963.1:n.2265T>C
ENST00000682624.1:c.*2066T>C	ENSP00000508343.1:n.*2066T>C
ENST00000682700.1:c.2492T>C	ENSP00000507627.1:p.Phe831Ser
ENST00000682744.1:n.2030T>C
ENST00000682804.1:n.2315T>C
ENST00000682837.1:c.1981T>C	ENSP00000507920.1:n.1981T>C
ENST00000682935.1:n.4542T>C
ENST00000682984.1:c.2153T>C	ENSP00000507209.1:p.Phe718Ser
ENST00000683078.1:c.2247T>C	ENSP00000506796.1:n.2247T>C
ENST00000683223.1:c.2224T>C	ENSP00000507685.1:n.2224T>C
ENST00000683238.1:n.3716T>C
ENST00000683249.1:n.4089T>C
ENST00000683336.1:c.2313T>C	ENSP00000507695.1:n.2313T>C
ENST00000683362.1:c.2153T>C	ENSP00000506985.1:p.Phe718Ser
ENST00000683850.1:n.2415T>C
ENST00000683919.1:c.2422T>C	ENSP00000507617.1:n.2422T>C
ENST00000683953.1:c.2403T>C	ENSP00000508375.1:n.2403T>C
ENST00000684023.1:c.2469T>C	ENSP00000507461.1:n.2469T>C
ENST00000684064.1:c.2183T>C	ENSP00000508192.1:p.Phe728Ser
ENST00000684089.1:n.4042T>C
ENST00000684149.1:c.*1671T>C	ENSP00000507943.1:n.*1671T>C
ENST00000684343.1:c.689T>C	ENSP00000507591.1:p.Phe230Ser
ENST00000684416.1:n.2451T>C
ENST00000684540.1:c.2422T>C	ENSP00000507987.1:n.2422T>C
ENST00000453321.8:c.2492T>C MANE Select	ENSP00000389998.3:p.Phe831Ser
ENST00000323130.7:c.2462T>C	ENSP00000314488.3:p.Phe821Ser
ENST00000409623.7:c.2249T>C	ENSP00000386966.3:p.Phe750Ser
ENST00000453321.7:c.2492T>C	ENSP00000389998.3:p.Phe831Ser
ENST00000474944.5:n.1630T>C
ENST00000519845.5:n.1224T>C
NM_001142301.1:c.2249T>C , LRG_688t2:c.2249T>C	NP_001135773.1:p.Phe750Ser
NM_153704.5:c.2492T>C , LRG_688t1:c.2492T>C	NP_714915.3:p.Phe831Ser
NR_024522.1:n.2563T>C
XM_006716686.2:c.2189T>C	XP_006716749.1:p.Phe730Ser
XM_006716687.2:c.1892T>C	XP_006716750.1:p.Phe631Ser
XM_011517363.1:c.1610T>C	XP_011515665.1:p.Phe537Ser
XR_428387.1:n.2550T>C
XR_928360.1:n.2550T>C
XR_928361.1:n.2550T>C
XR_928362.1:n.2550T>C
XM_006716686.4:c.2189T>C	XP_006716749.1:p.Phe730Ser
XM_011517363.3:c.1610T>C	XP_011515665.1:p.Phe537Ser
XM_024447326.1:c.1838T>C	XP_024303094.1:p.Phe613Ser
XR_001745619.2:n.2533T>C
XR_428387.2:n.2533T>C
XR_928360.3:n.2533T>C
XR_928362.3:n.2533T>C
NM_153704.6:c.2492T>C MANE Select	NP_714915.3:p.Phe831Ser
NR_024522.2:n.2513T>C