Canonical Allele Identifier: CA371688190

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94793109A>T (hg19) ; chr8:g.93780881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780881A>T , CM000670.2:g.93780881A>T	GRCh38
NC_000008.10:g.94793109A>T , CM000670.1:g.94793109A>T	GRCh37
NC_000008.9:g.94862285A>T	NCBI36
NG_009190.1:g.31038A>T , LRG_688:g.31038A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.877A>T	ENSP00000314488.4:p.Asn293Tyr
ENST00000409623.8:c.877A>T	ENSP00000386966.4:p.Asn293Tyr
ENST00000452276.6:c.877A>T	ENSP00000388671.2:p.Asn293Tyr
ENST00000453906.6:c.407-5342A>T	ENSP00000403035.2:n.407-5342A>T
ENST00000520680.2:c.877A>T	ENSP00000428785.2:p.Asn293Tyr
ENST00000521065.2:c.*594A>T	ENSP00000427947.2:n.*594A>T
ENST00000521517.6:c.877A>T	ENSP00000430740.2:p.Asn293Tyr
ENST00000681998.1:c.799+134A>T	ENSP00000506773.1:n.799+134A>T
ENST00000682036.1:c.407-5342A>T	ENSP00000508390.1:n.407-5342A>T
ENST00000682577.1:c.807A>T	ENSP00000506963.1:n.807A>T
ENST00000682624.1:c.*451A>T	ENSP00000508343.1:n.*451A>T
ENST00000682700.1:c.877A>T	ENSP00000507627.1:p.Asn293Tyr
ENST00000682744.1:n.415A>T
ENST00000682804.1:n.700A>T
ENST00000682837.1:c.624+134A>T	ENSP00000507920.1:n.624+134A>T
ENST00000682935.1:n.2437A>T
ENST00000682984.1:c.538A>T	ENSP00000507209.1:p.Asn180Tyr
ENST00000683078.1:c.632A>T	ENSP00000506796.1:n.632A>T
ENST00000683223.1:c.710+134A>T	ENSP00000507685.1:n.710+134A>T
ENST00000683238.1:n.2258A>T
ENST00000683249.1:n.2474A>T
ENST00000683336.1:c.799+134A>T	ENSP00000507695.1:n.799+134A>T
ENST00000683362.1:c.538A>T	ENSP00000506985.1:p.Asn180Tyr
ENST00000683850.1:n.800A>T
ENST00000683919.1:c.807A>T	ENSP00000507617.1:n.807A>T
ENST00000683953.1:c.788A>T	ENSP00000508375.1:n.788A>T
ENST00000684023.1:c.1011A>T	ENSP00000507461.1:n.1011A>T
ENST00000684064.1:c.568A>T	ENSP00000508192.1:p.Asn190Tyr
ENST00000684089.1:n.2427A>T
ENST00000684149.1:c.*213A>T	ENSP00000507943.1:n.*213A>T
ENST00000684416.1:n.836A>T
ENST00000684540.1:c.807A>T	ENSP00000507987.1:n.807A>T
ENST00000453321.8:c.877A>T MANE Select	ENSP00000389998.3:p.Asn293Tyr
ENST00000323130.7:c.847A>T	ENSP00000314488.3:p.Asn283Tyr
ENST00000409623.7:c.634A>T	ENSP00000386966.3:p.Asn212Tyr
ENST00000425545.2:n.324A>T
ENST00000452276.5:c.568A>T	ENSP00000388671.1:p.Asn190Tyr
ENST00000453321.7:c.877A>T	ENSP00000389998.3:p.Asn293Tyr
ENST00000453906.5:c.407-5342A>T	ENSP00000403035.1:n.407-5342A>T
ENST00000474944.5:n.427-5342A>T
ENST00000496213.5:n.342A>T
NM_001142301.1:c.634A>T , LRG_688t2:c.634A>T	NP_001135773.1:p.Asn212Tyr
NM_153704.5:c.877A>T , LRG_688t1:c.877A>T	NP_714915.3:p.Asn293Tyr
NR_024522.1:n.948A>T
XM_006716686.2:c.574A>T	XP_006716749.1:p.Asn192Tyr
XM_006716687.2:c.277A>T	XP_006716750.1:p.Asn93Tyr
XM_011517363.1:c.407-5342A>T	XP_011515665.1:n.407-5342A>T
XR_428387.1:n.935A>T
XR_928360.1:n.935A>T
XR_928361.1:n.935A>T
XR_928362.1:n.935A>T
XM_006716686.4:c.574A>T	XP_006716749.1:p.Asn192Tyr
XM_011517363.3:c.407-5342A>T	XP_011515665.1:n.407-5342A>T
XM_024447326.1:c.223A>T	XP_024303094.1:p.Asn75Tyr
XR_001745619.2:n.918A>T
XR_428387.2:n.918A>T
XR_928360.3:n.918A>T
XR_928362.3:n.918A>T
NM_153704.6:c.877A>T MANE Select	NP_714915.3:p.Asn293Tyr
NR_024522.2:n.898A>T