Canonical Allele Identifier: CA10631755

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 363922
• ClinVar RCV Id: RCV000262960 ; RCV000318190 ; RCV000372722
• dbSNP Id: rs148726767
• MyVariant Identifiers: chr8:g.94807662A>C (hg19) ; chr8:g.93795434A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93795434A>C , CM000670.2:g.93795434A>C	GRCh38
NC_000008.10:g.94807662A>C , CM000670.1:g.94807662A>C	GRCh37
NC_000008.9:g.94876838A>C	NCBI36
NG_009190.1:g.45591A>C , LRG_688:g.45591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1700A>C	ENSP00000314488.4:p.Tyr567Ser
ENST00000409623.8:c.1655A>C	ENSP00000386966.4:p.Tyr552Ser
ENST00000452276.6:c.1700A>C	ENSP00000388671.2:p.Tyr567Ser
ENST00000453906.6:c.818A>C	ENSP00000403035.2:p.Tyr273Ser
ENST00000520680.2:c.1823A>C	ENSP00000428785.2:p.Tyr608Ser
ENST00000521517.6:c.1675-467A>C	ENSP00000430740.2:n.1675-467A>C
ENST00000681998.1:c.1521A>C	ENSP00000506773.1:n.1521A>C
ENST00000682036.1:c.941A>C	ENSP00000508390.1:p.Tyr314Ser
ENST00000682577.1:c.1473A>C	ENSP00000506963.1:n.1473A>C
ENST00000682624.1:c.*1274A>C	ENSP00000508343.1:n.*1274A>C
ENST00000682700.1:c.1700A>C	ENSP00000507627.1:p.Tyr567Ser
ENST00000682744.1:n.1238A>C
ENST00000682804.1:n.1523A>C
ENST00000682837.1:c.1189A>C	ENSP00000507920.1:n.1189A>C
ENST00000682935.1:n.3750A>C
ENST00000682984.1:c.1361A>C	ENSP00000507209.1:p.Tyr454Ser
ENST00000683078.1:c.1455A>C	ENSP00000506796.1:n.1455A>C
ENST00000683223.1:c.1432A>C	ENSP00000507685.1:n.1432A>C
ENST00000683238.1:n.2924A>C
ENST00000683249.1:n.3297A>C
ENST00000683336.1:c.1521A>C	ENSP00000507695.1:n.1521A>C
ENST00000683362.1:c.1361A>C	ENSP00000506985.1:p.Tyr454Ser
ENST00000683850.1:n.1623A>C
ENST00000683919.1:c.1630A>C	ENSP00000507617.1:n.1630A>C
ENST00000683953.1:c.1611A>C	ENSP00000508375.1:n.1611A>C
ENST00000684023.1:c.1677A>C	ENSP00000507461.1:n.1677A>C
ENST00000684064.1:c.1391A>C	ENSP00000508192.1:p.Tyr464Ser
ENST00000684089.1:n.3250A>C
ENST00000684149.1:c.*879A>C	ENSP00000507943.1:n.*879A>C
ENST00000684343.1:c.-104A>C	ENSP00000507591.1:n.-104A>C
ENST00000684416.1:n.1659A>C
ENST00000684540.1:c.1630A>C	ENSP00000507987.1:n.1630A>C
ENST00000453321.8:c.1700A>C MANE Select	ENSP00000389998.3:p.Tyr567Ser
ENST00000323130.7:c.1670A>C	ENSP00000314488.3:p.Tyr557Ser
ENST00000409623.7:c.1457A>C	ENSP00000386966.3:p.Tyr486Ser
ENST00000453321.7:c.1700A>C	ENSP00000389998.3:p.Tyr567Ser
ENST00000474944.5:n.838A>C
ENST00000519845.5:n.432A>C
ENST00000520680.1:c.645A>C
ENST00000523230.5:n.235A>C
NM_001142301.1:c.1457A>C , LRG_688t2:c.1457A>C	NP_001135773.1:p.Tyr486Ser
NM_153704.5:c.1700A>C , LRG_688t1:c.1700A>C	NP_714915.3:p.Tyr567Ser
NR_024522.1:n.1771A>C
XM_006716686.2:c.1397A>C	XP_006716749.1:p.Tyr466Ser
XM_006716687.2:c.1100A>C	XP_006716750.1:p.Tyr367Ser
XM_011517363.1:c.818A>C	XP_011515665.1:p.Tyr273Ser
XR_428387.1:n.1758A>C
XR_928360.1:n.1758A>C
XR_928361.1:n.1758A>C
XR_928362.1:n.1758A>C
XM_006716686.4:c.1397A>C	XP_006716749.1:p.Tyr466Ser
XM_011517363.3:c.818A>C	XP_011515665.1:p.Tyr273Ser
XM_024447326.1:c.1046A>C	XP_024303094.1:p.Tyr349Ser
XR_001745619.2:n.1741A>C
XR_428387.2:n.1741A>C
XR_928360.3:n.1741A>C
XR_928362.3:n.1741A>C
NM_153704.6:c.1700A>C MANE Select	NP_714915.3:p.Tyr567Ser
NR_024522.2:n.1721A>C