Canonical Allele Identifier: CA212769

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 1379
• ClinVar RCV Id: RCV000001447 ; RCV000201565
• dbSNP Id: rs786200867
• gnomAD v4: 8-93808957-G-T
• MyVariant Identifiers: chr8:g.94821185G>T (hg19) ; chr8:g.93808957G>T (hg38)
• PubMed: PMID:19058225 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808957G>T , CM000670.2:g.93808957G>T	GRCh38
NC_000008.10:g.94821185G>T , CM000670.1:g.94821185G>T	GRCh37
NC_000008.9:g.94890361G>T	NCBI36
NG_009190.1:g.59114G>T , LRG_688:g.59114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2556+1G>T	ENSP00000314488.4:n.2556+1G>T
ENST00000409623.8:c.2511+1G>T	ENSP00000386966.4:n.2511+1G>T
ENST00000452276.6:c.2439+1G>T	ENSP00000388671.2:n.2439+1G>T
ENST00000453906.6:c.1674+1G>T	ENSP00000403035.2:n.1674+1G>T
ENST00000518896.2:c.847+1G>T	ENSP00000507992.1:n.847+1G>T
ENST00000520680.2:c.2679+1G>T	ENSP00000428785.2:n.2679+1G>T
ENST00000521517.6:c.2457+1G>T	ENSP00000430740.2:n.2457+1G>T
ENST00000681998.1:c.2377+1G>T	ENSP00000506773.1:n.2377+1G>T
ENST00000682036.1:c.1797+1G>T	ENSP00000508390.1:n.1797+1G>T
ENST00000682577.1:c.2329+1G>T	ENSP00000506963.1:n.2329+1G>T
ENST00000682624.1:c.*2130+1G>T	ENSP00000508343.1:n.*2130+1G>T
ENST00000682700.1:c.2556+1G>T	ENSP00000507627.1:n.2556+1G>T
ENST00000682744.1:n.2094+1G>T
ENST00000682804.1:n.2379+1G>T
ENST00000682837.1:c.2045+1G>T	ENSP00000507920.1:n.2045+1G>T
ENST00000682935.1:n.4606+1G>T
ENST00000682984.1:c.2217+1G>T	ENSP00000507209.1:n.2217+1G>T
ENST00000683078.1:c.2311+1G>T	ENSP00000506796.1:n.2311+1G>T
ENST00000683223.1:c.2288+1G>T	ENSP00000507685.1:n.2288+1G>T
ENST00000683238.1:n.3780+1G>T
ENST00000683249.1:n.4153+1G>T
ENST00000683336.1:c.2377+1G>T	ENSP00000507695.1:n.2377+1G>T
ENST00000683362.1:c.2217+1G>T	ENSP00000506985.1:n.2217+1G>T
ENST00000683850.1:n.2479+1G>T
ENST00000683919.1:c.2486+1G>T	ENSP00000507617.1:n.2486+1G>T
ENST00000683953.1:c.2467+1G>T	ENSP00000508375.1:n.2467+1G>T
ENST00000684023.1:c.2533+1G>T	ENSP00000507461.1:n.2533+1G>T
ENST00000684064.1:c.2247+1G>T	ENSP00000508192.1:n.2247+1G>T
ENST00000684089.1:n.4106+1G>T
ENST00000684149.1:c.*1735+1G>T	ENSP00000507943.1:n.*1735+1G>T
ENST00000684343.1:c.753+1G>T	ENSP00000507591.1:n.753+1G>T
ENST00000684416.1:n.2515+1G>T
ENST00000684540.1:c.2486+1G>T	ENSP00000507987.1:n.2486+1G>T
ENST00000453321.8:c.2556+1G>T MANE Select	ENSP00000389998.3:n.2556+1G>T
ENST00000323130.7:c.2526+1G>T	ENSP00000314488.3:n.2526+1G>T
ENST00000409623.7:c.2313+1G>T	ENSP00000386966.3:n.2313+1G>T
ENST00000453321.7:c.2556+1G>T	ENSP00000389998.3:n.2556+1G>T
ENST00000474944.5:n.1694+1G>T
ENST00000519845.5:n.1288+1G>T
NM_001142301.1:c.2313+1G>T , LRG_688t2:c.2313+1G>T	NP_001135773.1:n.2313+1G>T
NM_153704.5:c.2556+1G>T , LRG_688t1:c.2556+1G>T	NP_714915.3:n.2556+1G>T
NR_024522.1:n.2627+1G>T
XM_006716686.2:c.2253+1G>T	XP_006716749.1:n.2253+1G>T
XM_006716687.2:c.1956+1G>T	XP_006716750.1:n.1956+1G>T
XM_011517363.1:c.1674+1G>T	XP_011515665.1:n.1674+1G>T
XR_428387.1:n.2614+1G>T
XR_928360.1:n.2614+1G>T
XR_928361.1:n.2614+1G>T
XR_928362.1:n.2614+1G>T
XM_006716686.4:c.2253+1G>T	XP_006716749.1:n.2253+1G>T
XM_011517363.3:c.1674+1G>T	XP_011515665.1:n.1674+1G>T
XM_024447326.1:c.1902+1G>T	XP_024303094.1:n.1902+1G>T
XR_001745619.2:n.2597+1G>T
XR_428387.2:n.2597+1G>T
XR_928360.3:n.2597+1G>T
XR_928362.3:n.2597+1G>T
NM_153704.6:c.2556+1G>T MANE Select	NP_714915.3:n.2556+1G>T
NR_024522.2:n.2577+1G>T