Canonical Allele Identifier: CA371698875

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93808850-G-C
• MyVariant Identifiers: chr8:g.94821078G>C (hg19) ; chr8:g.93808850G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93808850G>C , CM000670.2:g.93808850G>C	GRCh38
NC_000008.10:g.94821078G>C , CM000670.1:g.94821078G>C	GRCh37
NC_000008.9:g.94890254G>C	NCBI36
NG_009190.1:g.59007G>C , LRG_688:g.59007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2450G>C	ENSP00000314488.4:p.Cys817Ser
ENST00000409623.8:c.2405G>C	ENSP00000386966.4:p.Cys802Ser
ENST00000452276.6:c.2333G>C	ENSP00000388671.2:p.Cys778Ser
ENST00000453906.6:c.1568G>C	ENSP00000403035.2:p.Cys523Ser
ENST00000518896.2:c.741G>C	ENSP00000507992.1:n.741G>C
ENST00000520680.2:c.2573G>C	ENSP00000428785.2:p.Cys858Ser
ENST00000521517.6:c.2351G>C	ENSP00000430740.2:p.Cys784Ser
ENST00000681998.1:c.2271G>C	ENSP00000506773.1:n.2271G>C
ENST00000682036.1:c.1691G>C	ENSP00000508390.1:p.Cys564Ser
ENST00000682577.1:c.2223G>C	ENSP00000506963.1:n.2223G>C
ENST00000682624.1:c.*2024G>C	ENSP00000508343.1:n.*2024G>C
ENST00000682700.1:c.2450G>C	ENSP00000507627.1:p.Cys817Ser
ENST00000682744.1:n.1988G>C
ENST00000682804.1:n.2273G>C
ENST00000682837.1:c.1939G>C	ENSP00000507920.1:n.1939G>C
ENST00000682935.1:n.4500G>C
ENST00000682984.1:c.2111G>C	ENSP00000507209.1:p.Cys704Ser
ENST00000683078.1:c.2205G>C	ENSP00000506796.1:n.2205G>C
ENST00000683223.1:c.2182G>C	ENSP00000507685.1:n.2182G>C
ENST00000683238.1:n.3674G>C
ENST00000683249.1:n.4047G>C
ENST00000683336.1:c.2271G>C	ENSP00000507695.1:n.2271G>C
ENST00000683362.1:c.2111G>C	ENSP00000506985.1:p.Cys704Ser
ENST00000683850.1:n.2373G>C
ENST00000683919.1:c.2380G>C	ENSP00000507617.1:n.2380G>C
ENST00000683953.1:c.2361G>C	ENSP00000508375.1:n.2361G>C
ENST00000684023.1:c.2427G>C	ENSP00000507461.1:n.2427G>C
ENST00000684064.1:c.2141G>C	ENSP00000508192.1:p.Cys714Ser
ENST00000684089.1:n.4000G>C
ENST00000684149.1:c.*1629G>C	ENSP00000507943.1:n.*1629G>C
ENST00000684343.1:c.647G>C	ENSP00000507591.1:p.Cys216Ser
ENST00000684416.1:n.2409G>C
ENST00000684540.1:c.2380G>C	ENSP00000507987.1:n.2380G>C
ENST00000453321.8:c.2450G>C MANE Select	ENSP00000389998.3:p.Cys817Ser
ENST00000323130.7:c.2420G>C	ENSP00000314488.3:p.Cys807Ser
ENST00000409623.7:c.2207G>C	ENSP00000386966.3:p.Cys736Ser
ENST00000453321.7:c.2450G>C	ENSP00000389998.3:p.Cys817Ser
ENST00000474944.5:n.1588G>C
ENST00000519845.5:n.1182G>C
NM_001142301.1:c.2207G>C , LRG_688t2:c.2207G>C	NP_001135773.1:p.Cys736Ser
NM_153704.5:c.2450G>C , LRG_688t1:c.2450G>C	NP_714915.3:p.Cys817Ser
NR_024522.1:n.2521G>C
XM_006716686.2:c.2147G>C	XP_006716749.1:p.Cys716Ser
XM_006716687.2:c.1850G>C	XP_006716750.1:p.Cys617Ser
XM_011517363.1:c.1568G>C	XP_011515665.1:p.Cys523Ser
XR_428387.1:n.2508G>C
XR_928360.1:n.2508G>C
XR_928361.1:n.2508G>C
XR_928362.1:n.2508G>C
XM_006716686.4:c.2147G>C	XP_006716749.1:p.Cys716Ser
XM_011517363.3:c.1568G>C	XP_011515665.1:p.Cys523Ser
XM_024447326.1:c.1796G>C	XP_024303094.1:p.Cys599Ser
XR_001745619.2:n.2491G>C
XR_428387.2:n.2491G>C
XR_928360.3:n.2491G>C
XR_928362.3:n.2491G>C
NM_153704.6:c.2450G>C MANE Select	NP_714915.3:p.Cys817Ser
NR_024522.2:n.2471G>C