Canonical Allele Identifier: CA371687692

Gene: TMEM67

Linked Data

• MyVariant Identifiers: chr8:g.94792821G>T (hg19) ; chr8:g.93780593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780593G>T , CM000670.2:g.93780593G>T	GRCh38
NC_000008.10:g.94792821G>T , CM000670.1:g.94792821G>T	GRCh37
NC_000008.9:g.94861997G>T	NCBI36
NG_009190.1:g.30750G>T , LRG_688:g.30750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.715G>T	ENSP00000314488.4:p.Val239Leu
ENST00000409623.8:c.715G>T	ENSP00000386966.4:p.Val239Leu
ENST00000452276.6:c.715G>T	ENSP00000388671.2:p.Val239Leu
ENST00000453906.6:c.407-5630G>T	ENSP00000403035.2:n.407-5630G>T
ENST00000520680.2:c.715G>T	ENSP00000428785.2:p.Val239Leu
ENST00000521065.2:c.*432G>T	ENSP00000427947.2:n.*432G>T
ENST00000521517.6:c.715G>T	ENSP00000430740.2:p.Val239Leu
ENST00000681998.1:c.645G>T	ENSP00000506773.1:n.645G>T
ENST00000682036.1:c.407-5630G>T	ENSP00000508390.1:n.407-5630G>T
ENST00000682577.1:c.645G>T	ENSP00000506963.1:n.645G>T
ENST00000682624.1:c.*289G>T	ENSP00000508343.1:n.*289G>T
ENST00000682700.1:c.715G>T	ENSP00000507627.1:p.Val239Leu
ENST00000682744.1:n.253G>T
ENST00000682804.1:n.538G>T
ENST00000682837.1:c.470G>T	ENSP00000507920.1:p.Gly157Val
ENST00000682935.1:n.2275G>T
ENST00000682984.1:c.376G>T	ENSP00000507209.1:p.Val126Leu
ENST00000683078.1:c.470G>T	ENSP00000506796.1:p.Gly157Val
ENST00000683223.1:c.556G>T	ENSP00000507685.1:n.556G>T
ENST00000683238.1:n.2096G>T
ENST00000683249.1:n.2296G>T
ENST00000683336.1:c.645G>T	ENSP00000507695.1:n.645G>T
ENST00000683362.1:c.376G>T	ENSP00000506985.1:p.Val126Leu
ENST00000683850.1:n.638G>T
ENST00000683919.1:c.645G>T	ENSP00000507617.1:n.645G>T
ENST00000683953.1:c.626G>T	ENSP00000508375.1:n.626G>T
ENST00000684023.1:c.849G>T	ENSP00000507461.1:n.849G>T
ENST00000684064.1:c.406G>T	ENSP00000508192.1:p.Val136Leu
ENST00000684089.1:n.2265G>T
ENST00000684149.1:c.*51G>T	ENSP00000507943.1:n.*51G>T
ENST00000684416.1:n.674G>T
ENST00000684540.1:c.645G>T	ENSP00000507987.1:n.645G>T
ENST00000453321.8:c.715G>T MANE Select	ENSP00000389998.3:p.Val239Leu
ENST00000323130.7:c.685G>T	ENSP00000314488.3:p.Val229Leu
ENST00000409623.7:c.472G>T	ENSP00000386966.3:p.Val158Leu
ENST00000425545.2:n.162G>T
ENST00000452276.5:c.406G>T	ENSP00000388671.1:p.Val136Leu
ENST00000453321.7:c.715G>T	ENSP00000389998.3:p.Val239Leu
ENST00000453906.5:c.407-5630G>T	ENSP00000403035.1:n.407-5630G>T
ENST00000474944.5:n.427-5630G>T
ENST00000496213.5:n.180G>T
NM_001142301.1:c.472G>T , LRG_688t2:c.472G>T	NP_001135773.1:p.Val158Leu
NM_153704.5:c.715G>T , LRG_688t1:c.715G>T	NP_714915.3:p.Val239Leu
NR_024522.1:n.786G>T
XM_006716686.2:c.412G>T	XP_006716749.1:p.Val138Leu
XM_006716687.2:c.115G>T	XP_006716750.1:p.Val39Leu
XM_011517363.1:c.407-5630G>T	XP_011515665.1:n.407-5630G>T
XR_428387.1:n.773G>T
XR_928360.1:n.773G>T
XR_928361.1:n.773G>T
XR_928362.1:n.773G>T
XM_006716686.4:c.412G>T	XP_006716749.1:p.Val138Leu
XM_011517363.3:c.407-5630G>T	XP_011515665.1:n.407-5630G>T
XM_024447326.1:c.61G>T	XP_024303094.1:p.Val21Leu
XR_001745619.2:n.756G>T
XR_428387.2:n.756G>T
XR_928360.3:n.756G>T
XR_928362.3:n.756G>T
NM_153704.6:c.715G>T MANE Select	NP_714915.3:p.Val239Leu
NR_024522.2:n.736G>T