Canonical Allele Identifier: CA383655331

Gene: NTM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.132146404A>C , CM000673.2:g.132146404A>C	GRCh38
NC_000011.9:g.132016298A>C , CM000673.1:g.132016298A>C	GRCh37
NC_000011.8:g.131521508A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683400.1:c.290A>C MANE Select	ENSP00000507313.1:p.Gln97Pro
ENST00000374784.5:c.290A>C	ENSP00000363916.1:p.Gln97Pro
ENST00000374786.5:c.290A>C	ENSP00000363918.1:p.Gln97Pro
ENST00000374791.7:c.290A>C	ENSP00000363923.3:p.Gln97Pro
ENST00000425719.6:c.290A>C	ENSP00000396722.2:p.Gln97Pro
ENST00000427481.6:c.-239A>C	ENSP00000416320.3:n.-239A>C
ENST00000467255.5:n.183A>C
ENST00000479431.1:n.331A>C
ENST00000498764.5:n.144-65618A>C
ENST00000539799.5:c.-239A>C	ENSP00000437668.2:n.-239A>C
ENST00000550167.5:c.263A>C	ENSP00000448104.1:p.Gln88Pro
NM_001048209.1:c.290A>C	NP_001041674.1:p.Gln97Pro
NM_001144058.1:c.290A>C	NP_001137530.1:p.Gln97Pro
NM_001144059.1:c.290A>C	NP_001137531.1:p.Gln97Pro
NM_016522.2:c.290A>C	NP_057606.1:p.Gln97Pro
XM_005271580.2:c.290A>C	XP_005271637.1:p.Gln97Pro
XM_005271581.2:c.290A>C	XP_005271638.1:p.Gln97Pro
XM_005271582.2:c.290A>C	XP_005271639.1:p.Gln97Pro
XM_006718854.2:c.263A>C	XP_006718917.1:p.Gln88Pro
XM_006718855.2:c.263A>C	XP_006718918.1:p.Gln88Pro
XM_006718856.2:c.167A>C	XP_006718919.1:p.Gln56Pro
XM_006718857.2:c.167A>C	XP_006718920.1:p.Gln56Pro
XM_011542860.1:c.233A>C	XP_011541162.1:p.Gln78Pro
XM_011542861.1:c.290A>C	XP_011541163.1:p.Gln97Pro
XR_947829.1:n.462A>C
NM_001352001.1:c.290A>C	NP_001338930.1:p.Gln97Pro
NM_001352002.1:c.290A>C	NP_001338931.1:p.Gln97Pro
NM_001352003.1:c.290A>C	NP_001338932.1:p.Gln97Pro
NM_001352004.1:c.290A>C	NP_001338933.1:p.Gln97Pro
NM_001352005.1:c.290A>C	NP_001338934.1:p.Gln97Pro
NM_001352006.1:c.263A>C	NP_001338935.1:p.Gln88Pro
NM_001352007.1:c.263A>C	NP_001338936.1:p.Gln88Pro
NM_001352008.1:c.233A>C	NP_001338937.1:p.Gln78Pro
NM_001352009.1:c.167A>C	NP_001338938.1:p.Gln56Pro
NR_147848.1:n.621A>C
NR_147849.1:n.467-65618A>C
NR_147850.1:n.589A>C
NR_147851.1:n.954A>C
NR_147852.1:n.832-65618A>C
NR_147853.1:n.954A>C
NR_147854.1:n.832-65618A>C
XM_011542861.2:c.290A>C	XP_011541163.1:p.Gln97Pro
XM_017017852.2:c.290A>C	XP_016873341.1:p.Gln97Pro
XM_017017854.1:c.290A>C	XP_016873343.1:p.Gln97Pro
XM_017017855.2:c.290A>C	XP_016873344.1:p.Gln97Pro
XM_017017856.1:c.263A>C	XP_016873345.1:p.Gln88Pro
XM_017017857.2:c.263A>C	XP_016873346.1:p.Gln88Pro
XM_017017858.2:c.263A>C	XP_016873347.1:p.Gln88Pro
XM_017017859.1:c.263A>C	XP_016873348.1:p.Gln88Pro
XM_017017860.2:c.167A>C	XP_016873349.1:p.Gln56Pro
XM_017017862.2:c.263A>C	XP_016873351.1:p.Gln88Pro
XM_017017863.1:c.167A>C	XP_016873352.1:p.Gln56Pro
XM_017017865.2:c.290A>C	XP_016873354.1:p.Gln97Pro
XM_017017866.2:c.167A>C	XP_016873355.1:p.Gln56Pro
XM_024448566.1:c.263A>C	XP_024304334.1:p.Gln88Pro
XM_024448567.1:c.233A>C	XP_024304335.1:p.Gln78Pro
XM_024448568.1:c.263A>C	XP_024304336.1:p.Gln88Pro
XM_024448569.1:c.167A>C	XP_024304337.1:p.Gln56Pro
XR_001747893.1:n.724A>C
XR_001747894.2:n.789A>C
XR_001747896.1:n.724A>C
NM_001048209.2:c.290A>C	NP_001041674.1:p.Gln97Pro
NM_001352001.2:c.290A>C	NP_001338930.1:p.Gln97Pro
NM_001352003.2:c.290A>C	NP_001338932.1:p.Gln97Pro
NM_001352005.2:c.290A>C MANE Select	NP_001338934.1:p.Gln97Pro
NM_001352006.2:c.263A>C	NP_001338935.1:p.Gln88Pro
NM_001352007.2:c.263A>C	NP_001338936.1:p.Gln88Pro
NM_001352009.2:c.167A>C	NP_001338938.1:p.Gln56Pro
NR_147848.2:n.482A>C
NR_147849.2:n.149-65618A>C
NR_147850.2:n.271A>C
NM_001144058.2:c.290A>C	NP_001137530.1:p.Gln97Pro
NM_001144059.3:c.290A>C	NP_001137531.1:p.Gln97Pro
NM_001352002.2:c.290A>C	NP_001338931.1:p.Gln97Pro
NM_001352004.2:c.290A>C	NP_001338933.1:p.Gln97Pro
NM_001352008.2:c.233A>C	NP_001338937.1:p.Gln78Pro
NM_001386964.1:c.248A>C	NP_001373893.1:p.Gln83Pro
NM_001386965.1:c.185A>C	NP_001373894.1:p.Gln62Pro
NM_001386966.1:c.167A>C	NP_001373895.1:p.Gln56Pro
NM_001386967.1:c.275A>C	NP_001373896.1:p.Gln92Pro
NM_001386968.1:c.167A>C	NP_001373897.1:p.Gln56Pro
NM_001386969.1:c.167A>C	NP_001373898.1:p.Gln56Pro
NM_016522.3:c.290A>C	NP_057606.1:p.Gln97Pro
NR_147851.2:n.436A>C
NR_147852.2:n.314-65618A>C
NR_147853.2:n.436A>C
NR_147854.2:n.314-65618A>C
NR_170346.1:n.650A>C
NR_170347.1:n.482A>C
NR_170348.1:n.397A>C
NR_170349.1:n.360-65618A>C
NR_170350.1:n.397A>C
NR_170351.1:n.602A>C
NR_170352.1:n.602A>C
NR_170354.1:n.639A>C
NR_170355.1:n.482A>C
NR_170357.1:n.482A>C
NR_170358.1:n.484A>C
NR_170359.1:n.271A>C
NR_170360.1:n.436A>C
NR_170361.1:n.436A>C
NR_170366.1:n.482A>C