Canonical Allele Identifier: CA144483

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 56780
• ClinVar RCV Id: RCV000050193
• dbSNP Id: rs386834199
• COSMIC: COSM5000310 ; COSM5000311 ; COSM5000312
• MyVariant Identifiers: chr8:g.94827665T>C (hg19) ; chr8:g.93815437T>C (hg38)
• PubMed: PMID:17377820 ; PMID:19466712

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93815437T>C , CM000670.2:g.93815437T>C	GRCh38
NC_000008.10:g.94827665T>C , CM000670.1:g.94827665T>C	GRCh37
NC_000008.9:g.94896841T>C	NCBI36
NG_009190.1:g.65594T>C , LRG_688:g.65594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2897T>C	ENSP00000314488.4:p.Leu966Pro
ENST00000409623.8:c.2852T>C	ENSP00000386966.4:p.Leu951Pro
ENST00000452276.6:c.2780T>C	ENSP00000388671.2:p.Leu927Pro
ENST00000453906.6:c.2015T>C	ENSP00000403035.2:p.Leu672Pro
ENST00000518896.2:c.1188T>C	ENSP00000507992.1:n.1188T>C
ENST00000520680.2:c.3020T>C	ENSP00000428785.2:p.Leu1007Pro
ENST00000521517.6:c.2798T>C	ENSP00000430740.2:p.Leu933Pro
ENST00000681998.1:c.2718T>C	ENSP00000506773.1:n.2718T>C
ENST00000682036.1:c.2138T>C	ENSP00000508390.1:p.Leu713Pro
ENST00000682577.1:c.2670T>C	ENSP00000506963.1:n.2670T>C
ENST00000682624.1:c.*2471T>C	ENSP00000508343.1:n.*2471T>C
ENST00000682700.1:c.3028T>C	ENSP00000507627.1:n.3028T>C
ENST00000682744.1:n.2332T>C
ENST00000682804.1:n.2720T>C
ENST00000682837.1:c.2386T>C	ENSP00000507920.1:n.2386T>C
ENST00000682935.1:n.4947T>C
ENST00000682984.1:c.2558T>C	ENSP00000507209.1:p.Leu853Pro
ENST00000683078.1:c.2652T>C	ENSP00000506796.1:n.2652T>C
ENST00000683223.1:c.2823T>C	ENSP00000507685.1:n.2823T>C
ENST00000683238.1:n.4121T>C
ENST00000683249.1:n.4494T>C
ENST00000683336.1:c.2615T>C	ENSP00000507695.1:n.2615T>C
ENST00000683362.1:c.2558T>C	ENSP00000506985.1:p.Leu853Pro
ENST00000683919.1:c.2827T>C	ENSP00000507617.1:n.2827T>C
ENST00000683953.1:c.2808T>C	ENSP00000508375.1:n.2808T>C
ENST00000684023.1:c.3068T>C	ENSP00000507461.1:n.3068T>C
ENST00000684064.1:c.2588T>C	ENSP00000508192.1:p.Leu863Pro
ENST00000684089.1:n.4447T>C
ENST00000684149.1:c.*2076T>C	ENSP00000507943.1:n.*2076T>C
ENST00000684343.1:c.1094T>C	ENSP00000507591.1:p.Leu365Pro
ENST00000684416.1:n.2856T>C
ENST00000684540.1:c.3021T>C	ENSP00000507987.1:n.3021T>C
ENST00000453321.8:c.2897T>C MANE Select	ENSP00000389998.3:p.Leu966Pro
ENST00000323130.7:c.2867T>C	ENSP00000314488.3:p.Leu956Pro
ENST00000409623.7:c.2654T>C	ENSP00000386966.3:p.Leu885Pro
ENST00000453321.7:c.2897T>C	ENSP00000389998.3:p.Leu966Pro
ENST00000518896.1:n.163T>C
ENST00000519845.5:n.1629T>C
NM_001142301.1:c.2654T>C , LRG_688t2:c.2654T>C	NP_001135773.1:p.Leu885Pro
NM_153704.5:c.2897T>C , LRG_688t1:c.2897T>C	NP_714915.3:p.Leu966Pro
NR_024522.1:n.2968T>C
XM_006716686.2:c.2594T>C	XP_006716749.1:p.Leu865Pro
XM_006716687.2:c.2297T>C	XP_006716750.1:p.Leu766Pro
XM_011517363.1:c.2015T>C	XP_011515665.1:p.Leu672Pro
XR_428387.1:n.2955T>C
XR_928360.1:n.2955T>C
XR_928361.1:n.2955T>C
XR_928362.1:n.3149T>C
XM_006716686.4:c.2594T>C	XP_006716749.1:p.Leu865Pro
XM_011517363.3:c.2015T>C	XP_011515665.1:p.Leu672Pro
XM_024447326.1:c.2243T>C	XP_024303094.1:p.Leu748Pro
XR_001745619.2:n.2938T>C
XR_428387.2:n.2938T>C
XR_928360.3:n.2938T>C
XR_928362.3:n.3132T>C
NM_153704.6:c.2897T>C MANE Select	NP_714915.3:p.Leu966Pro
NR_024522.2:n.2918T>C