Canonical Allele Identifier: CA3257948

Gene: NNT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.43645388C>T , CM000667.2:g.43645388C>T	GRCh38
NC_000005.9:g.43645490C>T , CM000667.1:g.43645490C>T	GRCh37
NC_000005.8:g.43681247C>T	NCBI36
NG_032869.1:g.47700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344920.9:c.1322C>T MANE Select	ENSP00000343873.4:p.Pro441Leu
ENST00000503651.2:n.692C>T
ENST00000652986.1:c.*628C>T	ENSP00000499801.1:n.*628C>T
ENST00000653251.1:c.1322C>T	ENSP00000499281.1:p.Pro441Leu
ENST00000654405.1:c.1145C>T	ENSP00000499670.1:p.Pro382Leu
ENST00000654931.1:c.*1184C>T	ENSP00000499477.1:n.*1184C>T
ENST00000656666.1:c.1322C>T	ENSP00000499249.1:p.Pro441Leu
ENST00000657172.1:c.929C>T	ENSP00000499431.1:p.Pro310Leu
ENST00000657973.1:c.*921C>T	ENSP00000499581.1:n.*921C>T
ENST00000658729.1:c.*628C>T	ENSP00000499331.1:n.*628C>T
ENST00000660676.1:c.1322C>T	ENSP00000499491.1:p.Pro441Leu
ENST00000660752.1:c.1322C>T	ENSP00000499701.1:p.Pro441Leu
ENST00000662525.1:c.1322C>T	ENSP00000499639.1:p.Pro441Leu
ENST00000669601.1:c.1322C>T	ENSP00000499527.1:p.Pro441Leu
ENST00000670904.1:c.1322C>T	ENSP00000499611.1:p.Pro441Leu
ENST00000671668.1:c.1322C>T	ENSP00000499494.1:p.Pro441Leu
ENST00000264663.9:c.1322C>T	ENSP00000264663.5:p.Pro441Leu
ENST00000344920.8:c.1322C>T	ENSP00000343873.4:p.Pro441Leu
ENST00000503651.1:c.32C>T	ENSP00000421674.1:p.Pro11Leu
ENST00000506893.1:n.90C>T
ENST00000512996.6:c.929C>T	ENSP00000426343.1:p.Pro310Leu
NM_012343.3:c.1322C>T	NP_036475.3:p.Pro441Leu
NM_182977.2:c.1322C>T	NP_892022.2:p.Pro441Leu
XM_005248274.3:c.1322C>T	XP_005248331.1:p.Pro441Leu
XM_006714461.2:c.929C>T	XP_006714524.1:p.Pro310Leu
XM_011514001.1:c.1322C>T	XP_011512303.1:p.Pro441Leu
XM_011514002.1:c.929C>T	XP_011512304.1:p.Pro310Leu
NM_001331026.1:c.929C>T	NP_001317955.1:p.Pro310Leu
XM_005248274.5:c.1322C>T	XP_005248331.1:p.Pro441Leu
XM_005248275.5:c.-438C>T	XP_005248332.1:n.-438C>T
XM_006714461.4:c.929C>T	XP_006714524.1:p.Pro310Leu
XM_011514001.3:c.1322C>T	XP_011512303.1:p.Pro441Leu
XM_017009293.2:c.1322C>T	XP_016864782.1:p.Pro441Leu
XM_024446009.1:c.-1402C>T	XP_024301777.1:n.-1402C>T
NM_182977.3:c.1322C>T MANE Select	NP_892022.2:p.Pro441Leu
NM_001331026.2:c.929C>T	NP_001317955.1:p.Pro310Leu
NM_012343.4:c.1322C>T	NP_036475.3:p.Pro441Leu