Canonical Allele Identifier: CA402620819
Community Standard Title: NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro)
Gene: TNFRSF11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62384976T>C , CM000680.2:g.62384976T>C GRCh38
NC_000018.9:g.60052209T>C , CM000680.1:g.60052209T>C GRCh37
NC_000018.8:g.58203189T>C NCBI36
NG_008098.1:g.64662T>C , LRG_194:g.64662T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003839.4:c.1793T>C MANE Select NP_003830.1:p.Leu598Pro
ENST00000586569.3:c.1793T>C MANE Select ENSP00000465500.1:p.Leu598Pro
NM_001270949.1:c.*217T>C NP_001257878.1:n.*217T>C
NM_001270949.2:c.*217T>C NP_001257878.1:n.*217T>C
NM_001270950.1:c.956T>C NP_001257879.1:p.Leu319Pro
NM_001270950.2:c.956T>C NP_001257879.1:p.Leu319Pro
NM_001270951.1:c.842T>C NP_001257880.1:p.Leu281Pro
NM_001270951.2:c.842T>C NP_001257880.1:p.Leu281Pro
NM_001278268.1:c.1751T>C NP_001265197.1:p.Leu584Pro
NM_001278268.2:c.1751T>C NP_001265197.1:p.Leu584Pro
NM_003839.3:c.1793T>C NP_003830.1:p.Leu598Pro
ENST00000269485.11:c.842T>C ENSP00000269485.7:p.Leu281Pro
ENST00000586569.2:c.1793T>C ENSP00000465500.1:p.Leu598Pro
ENST00000616710.4:c.*217T>C ENSP00000479567.1:n.*217T>C
ENST00000617039.4:c.956T>C ENSP00000482466.1:p.Leu319Pro
XM_011526244.1:c.1808T>C XP_011524546.1:p.Leu603Pro
XM_011526244.2:c.1808T>C XP_011524546.1:p.Leu603Pro
XM_011526245.1:c.1685T>C XP_011524547.1:p.Leu562Pro
XM_011526245.2:c.1685T>C XP_011524547.1:p.Leu562Pro
XM_017026064.1:c.1685T>C XP_016881553.1:p.Leu562Pro
XM_017026065.1:c.1643T>C XP_016881554.1:p.Leu548Pro
XM_017026066.1:c.1583T>C XP_016881555.1:p.Leu528Pro
XR_935263.1:n.1971T>C