Canonical Allele Identifier: CA6784727
Community Standard Title: NM_016238.3(ANAPC7):c.137T>C (p.Leu46Ser)
Gene: ANAPC7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110396417A>G , CM000674.2:g.110396417A>G GRCh38
NC_000012.11:g.110834222A>G , CM000674.1:g.110834222A>G GRCh37
NC_000012.10:g.109318605A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016238.3:c.137T>C MANE Select NP_057322.3:p.Leu46Ser
ENST00000455511.9:c.137T>C MANE Select ENSP00000394394.4:p.Leu46Ser
NM_001137664.1:c.239T>C NP_001131136.1:p.Leu80Ser
NM_001137664.2:c.137T>C NP_001131136.2:p.Leu46Ser
NM_001385208.1:c.179T>C NP_001372137.1:p.Leu60Ser
NM_001385209.1:c.-65T>C NP_001372138.1:n.-65T>C
NM_001385210.1:c.-65T>C NP_001372139.1:n.-65T>C
NM_001385211.1:c.137T>C NP_001372140.1:p.Leu46Ser
NM_001385212.1:c.-313T>C NP_001372141.1:n.-313T>C
NM_016238.2:c.239T>C NP_057322.2:p.Leu80Ser
ENST00000450008.2:c.239T>C ENSP00000402314.2:p.Leu80Ser
ENST00000450008.3:c.137T>C ENSP00000402314.3:p.Leu46Ser
ENST00000455511.7:c.239T>C ENSP00000394394.3:p.Leu80Ser
ENST00000455511.8:c.137T>C ENSP00000394394.4:p.Leu46Ser
ENST00000464697.1:n.199T>C
ENST00000546720.5:n.94T>C
ENST00000552170.1:c.139-1197T>C
ENST00000552170.2:c.102-1197T>C ENSP00000450405.2:n.102-1197T>C
XM_005253903.2:c.-313T>C XP_005253960.1:n.-313T>C
XM_005253903.3:c.-313T>C XP_005253960.1:n.-313T>C
XM_011538454.1:c.179T>C XP_011536756.1:p.Leu60Ser
XM_011538454.2:c.179T>C XP_011536756.1:p.Leu60Ser
XM_017019425.1:c.239T>C XP_016874914.1:p.Leu80Ser
XM_017019426.1:c.-65T>C XP_016874915.1:n.-65T>C
XM_017019427.1:c.-65T>C XP_016874916.1:n.-65T>C
XM_017019428.1:c.-313T>C XP_016874917.1:n.-313T>C
XR_001748747.1:n.240T>C
XR_001748748.1:n.240T>C
XR_001748749.1:n.845T>C
XR_243015.2:n.240T>C