Canonical Allele Identifier: CA461855676

Gene: TMEM67

Linked Data

• dbSNP Id: rs1813777299
• gnomAD v4: 8-93780655-T-C
• MyVariant Identifiers: chr8:g.94792883T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780655T>C , CM000670.2:g.93780655T>C	GRCh38
NC_000008.10:g.94792883T>C , CM000670.1:g.94792883T>C	GRCh37
NC_000008.9:g.94862059T>C	NCBI36
NG_009190.1:g.30812T>C , LRG_688:g.30812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.777T>C	ENSP00000314488.4:p.Ser259=
ENST00000409623.8:c.777T>C	ENSP00000386966.4:p.Ser259=
ENST00000452276.6:c.777T>C	ENSP00000388671.2:p.Ser259=
ENST00000453906.6:c.407-5568T>C	ENSP00000403035.2:n.407-5568T>C
ENST00000520680.2:c.777T>C	ENSP00000428785.2:p.Ser259=
ENST00000521065.2:c.*494T>C	ENSP00000427947.2:n.*494T>C
ENST00000521517.6:c.777T>C	ENSP00000430740.2:p.Ser259=
ENST00000681998.1:c.707T>C	ENSP00000506773.1:n.707T>C
ENST00000682036.1:c.407-5568T>C	ENSP00000508390.1:n.407-5568T>C
ENST00000682577.1:c.707T>C	ENSP00000506963.1:n.707T>C
ENST00000682624.1:c.*351T>C	ENSP00000508343.1:n.*351T>C
ENST00000682700.1:c.777T>C	ENSP00000507627.1:p.Ser259=
ENST00000682744.1:n.315T>C
ENST00000682804.1:n.600T>C
ENST00000682837.1:c.532T>C	ENSP00000507920.1:p.Leu178=
ENST00000682935.1:n.2337T>C
ENST00000682984.1:c.438T>C	ENSP00000507209.1:p.Ser146=
ENST00000683078.1:c.532T>C	ENSP00000506796.1:p.Leu178=
ENST00000683223.1:c.618T>C	ENSP00000507685.1:n.618T>C
ENST00000683238.1:n.2158T>C
ENST00000683249.1:n.2358T>C
ENST00000683336.1:c.707T>C	ENSP00000507695.1:n.707T>C
ENST00000683362.1:c.438T>C	ENSP00000506985.1:p.Ser146=
ENST00000683850.1:n.700T>C
ENST00000683919.1:c.707T>C	ENSP00000507617.1:n.707T>C
ENST00000683953.1:c.688T>C	ENSP00000508375.1:n.688T>C
ENST00000684023.1:c.911T>C	ENSP00000507461.1:n.911T>C
ENST00000684064.1:c.468T>C	ENSP00000508192.1:p.Ser156=
ENST00000684089.1:n.2327T>C
ENST00000684149.1:c.*113T>C	ENSP00000507943.1:n.*113T>C
ENST00000684416.1:n.736T>C
ENST00000684540.1:c.707T>C	ENSP00000507987.1:n.707T>C
ENST00000453321.8:c.777T>C MANE Select	ENSP00000389998.3:p.Ser259=
ENST00000323130.7:c.747T>C	ENSP00000314488.3:p.Ser249=
ENST00000409623.7:c.534T>C	ENSP00000386966.3:p.Ser178=
ENST00000425545.2:n.224T>C
ENST00000452276.5:c.468T>C	ENSP00000388671.1:p.Ser156=
ENST00000453321.7:c.777T>C	ENSP00000389998.3:p.Ser259=
ENST00000453906.5:c.407-5568T>C	ENSP00000403035.1:n.407-5568T>C
ENST00000474944.5:n.427-5568T>C
ENST00000496213.5:n.242T>C
NM_001142301.1:c.534T>C , LRG_688t2:c.534T>C	NP_001135773.1:p.Ser178=
NM_153704.5:c.777T>C , LRG_688t1:c.777T>C	NP_714915.3:p.Ser259=
NR_024522.1:n.848T>C
XM_006716686.2:c.474T>C	XP_006716749.1:p.Ser158=
XM_006716687.2:c.177T>C	XP_006716750.1:p.Ser59=
XM_011517363.1:c.407-5568T>C	XP_011515665.1:n.407-5568T>C
XR_428387.1:n.835T>C
XR_928360.1:n.835T>C
XR_928361.1:n.835T>C
XR_928362.1:n.835T>C
XM_006716686.4:c.474T>C	XP_006716749.1:p.Ser158=
XM_011517363.3:c.407-5568T>C	XP_011515665.1:n.407-5568T>C
XM_024447326.1:c.123T>C	XP_024303094.1:p.Ser41=
XR_001745619.2:n.818T>C
XR_428387.2:n.818T>C
XR_928360.3:n.818T>C
XR_928362.3:n.818T>C
NM_153704.6:c.777T>C MANE Select	NP_714915.3:p.Ser259=
NR_024522.2:n.798T>C