Canonical Allele Identifier: CA371688212

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780887-C-T
• MyVariant Identifiers: chr8:g.94793115C>T (hg19) ; chr8:g.93780887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780887C>T , CM000670.2:g.93780887C>T	GRCh38
NC_000008.10:g.94793115C>T , CM000670.1:g.94793115C>T	GRCh37
NC_000008.9:g.94862291C>T	NCBI36
NG_009190.1:g.31044C>T , LRG_688:g.31044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.883C>T	ENSP00000314488.4:p.Pro295Ser
ENST00000409623.8:c.883C>T	ENSP00000386966.4:p.Pro295Ser
ENST00000452276.6:c.883C>T	ENSP00000388671.2:p.Pro295Ser
ENST00000453906.6:c.407-5336C>T	ENSP00000403035.2:n.407-5336C>T
ENST00000520680.2:c.883C>T	ENSP00000428785.2:p.Pro295Ser
ENST00000521065.2:c.*600C>T	ENSP00000427947.2:n.*600C>T
ENST00000521517.6:c.883C>T	ENSP00000430740.2:p.Pro295Ser
ENST00000681998.1:c.799+140C>T	ENSP00000506773.1:n.799+140C>T
ENST00000682036.1:c.407-5336C>T	ENSP00000508390.1:n.407-5336C>T
ENST00000682577.1:c.813C>T	ENSP00000506963.1:n.813C>T
ENST00000682624.1:c.*457C>T	ENSP00000508343.1:n.*457C>T
ENST00000682700.1:c.883C>T	ENSP00000507627.1:p.Pro295Ser
ENST00000682744.1:n.421C>T
ENST00000682804.1:n.706C>T
ENST00000682837.1:c.624+140C>T	ENSP00000507920.1:n.624+140C>T
ENST00000682935.1:n.2443C>T
ENST00000682984.1:c.544C>T	ENSP00000507209.1:p.Pro182Ser
ENST00000683078.1:c.638C>T	ENSP00000506796.1:n.638C>T
ENST00000683223.1:c.710+140C>T	ENSP00000507685.1:n.710+140C>T
ENST00000683238.1:n.2264C>T
ENST00000683249.1:n.2480C>T
ENST00000683336.1:c.799+140C>T	ENSP00000507695.1:n.799+140C>T
ENST00000683362.1:c.544C>T	ENSP00000506985.1:p.Pro182Ser
ENST00000683850.1:n.806C>T
ENST00000683919.1:c.813C>T	ENSP00000507617.1:n.813C>T
ENST00000683953.1:c.794C>T	ENSP00000508375.1:n.794C>T
ENST00000684023.1:c.1017C>T	ENSP00000507461.1:n.1017C>T
ENST00000684064.1:c.574C>T	ENSP00000508192.1:p.Pro192Ser
ENST00000684089.1:n.2433C>T
ENST00000684149.1:c.*219C>T	ENSP00000507943.1:n.*219C>T
ENST00000684416.1:n.842C>T
ENST00000684540.1:c.813C>T	ENSP00000507987.1:n.813C>T
ENST00000453321.8:c.883C>T MANE Select	ENSP00000389998.3:p.Pro295Ser
ENST00000323130.7:c.853C>T	ENSP00000314488.3:p.Pro285Ser
ENST00000409623.7:c.640C>T	ENSP00000386966.3:p.Pro214Ser
ENST00000425545.2:n.330C>T
ENST00000452276.5:c.574C>T	ENSP00000388671.1:p.Pro192Ser
ENST00000453321.7:c.883C>T	ENSP00000389998.3:p.Pro295Ser
ENST00000453906.5:c.407-5336C>T	ENSP00000403035.1:n.407-5336C>T
ENST00000474944.5:n.427-5336C>T
ENST00000496213.5:n.348C>T
NM_001142301.1:c.640C>T , LRG_688t2:c.640C>T	NP_001135773.1:p.Pro214Ser
NM_153704.5:c.883C>T , LRG_688t1:c.883C>T	NP_714915.3:p.Pro295Ser
NR_024522.1:n.954C>T
XM_006716686.2:c.580C>T	XP_006716749.1:p.Pro194Ser
XM_006716687.2:c.283C>T	XP_006716750.1:p.Pro95Ser
XM_011517363.1:c.407-5336C>T	XP_011515665.1:n.407-5336C>T
XR_428387.1:n.941C>T
XR_928360.1:n.941C>T
XR_928361.1:n.941C>T
XR_928362.1:n.941C>T
XM_006716686.4:c.580C>T	XP_006716749.1:p.Pro194Ser
XM_011517363.3:c.407-5336C>T	XP_011515665.1:n.407-5336C>T
XM_024447326.1:c.229C>T	XP_024303094.1:p.Pro77Ser
XR_001745619.2:n.924C>T
XR_428387.2:n.924C>T
XR_928360.3:n.924C>T
XR_928362.3:n.924C>T
NM_153704.6:c.883C>T MANE Select	NP_714915.3:p.Pro295Ser
NR_024522.2:n.904C>T