Canonical Allele Identifier: CA357921561
Gene: LARP7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.112646396T>A , CM000666.2:g.112646396T>A GRCh38
NC_000004.11:g.113567552T>A , CM000666.1:g.113567552T>A GRCh37
NC_000004.10:g.113787001T>A NCBI36
NG_032779.1:g.14433T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505034.6:c.248T>A ENSP00000421541.2:p.Leu83Ter
ENST00000505216.2:c.*7T>A ENSP00000424116.1:n.*7T>A
ENST00000694891.1:c.248T>A ENSP00000511571.1:p.Leu83Ter
ENST00000694892.1:n.252T>A
ENST00000694893.1:n.341T>A
ENST00000694894.1:c.248T>A ENSP00000511572.1:p.Leu83Ter
ENST00000694895.1:c.248T>A ENSP00000511573.1:p.Leu83Ter
ENST00000694896.1:c.248T>A ENSP00000511574.1:p.Leu83Ter
ENST00000694897.1:c.248T>A ENSP00000511575.1:p.Leu83Ter
ENST00000694898.1:c.248T>A ENSP00000511576.1:p.Leu83Ter
ENST00000694899.1:c.248T>A ENSP00000511577.1:p.Leu83Ter
ENST00000694900.1:c.248T>A ENSP00000511578.1:p.Leu83Ter
ENST00000694901.1:c.*7T>A ENSP00000511579.1:n.*7T>A
ENST00000694902.1:n.769T>A
ENST00000511529.2:c.248T>A ENSP00000426376.2:p.Leu83Ter
ENST00000512361.2:n.357T>A
ENST00000512589.6:c.*54T>A ENSP00000426709.1:n.*54T>A
ENST00000684864.1:c.248T>A ENSP00000509993.1:p.Leu83Ter
ENST00000688617.1:n.522T>A
ENST00000689262.1:n.1399T>A
ENST00000689844.1:c.248T>A ENSP00000509899.1:p.Leu83Ter
ENST00000690008.1:c.*7T>A ENSP00000508938.1:n.*7T>A
ENST00000692075.1:n.413T>A
ENST00000692168.1:n.336T>A
ENST00000692416.1:c.11T>A ENSP00000509527.1:p.Leu4Ter
ENST00000693375.1:c.11T>A ENSP00000508585.1:p.Leu4Ter
ENST00000693442.1:c.248T>A ENSP00000509975.1:p.Leu83Ter
ENST00000344442.10:c.248T>A MANE Select ENSP00000344950.5:p.Leu83Ter
ENST00000651579.1:c.248T>A ENSP00000499190.1:p.Leu83Ter
ENST00000324052.10:c.248T>A ENSP00000314311.6:p.Leu83Ter
ENST00000344442.9:c.248T>A ENSP00000344950.5:p.Leu83Ter
ENST00000505034.5:c.248T>A ENSP00000421541.1:p.Leu83Ter
ENST00000505216.1:c.*7T>A ENSP00000424116.1:n.*7T>A
ENST00000507443.1:c.248T>A ENSP00000421963.1:p.Leu83Ter
ENST00000508577.5:c.248T>A ENSP00000426646.1:p.Leu83Ter
ENST00000509061.5:c.269T>A ENSP00000422626.1:p.Leu90Ter
ENST00000509622.5:c.*7T>A ENSP00000422451.1:n.*7T>A
ENST00000512589.5:c.*54T>A ENSP00000426709.1:n.*54T>A
ENST00000513553.5:c.31-1323T>A ENSP00000422013.1:n.31-1323T>A
NM_001267039.1:c.269T>A NP_001253968.1:p.Leu90Ter
NM_015454.2:c.248T>A NP_056269.1:p.Leu83Ter
NM_016648.3:c.248T>A NP_057732.2:p.Leu83Ter
NR_049768.1:n.423T>A
XM_024454080.1:c.248T>A XP_024309848.1:p.Leu83Ter
XM_024454081.1:c.248T>A XP_024309849.1:p.Leu83Ter
XM_024454082.1:c.248T>A XP_024309850.1:p.Leu83Ter
XM_024454083.1:c.248T>A XP_024309851.1:p.Leu83Ter
XM_024454084.1:c.248T>A XP_024309852.1:p.Leu83Ter
XM_024454085.1:c.248T>A XP_024309853.1:p.Leu83Ter
XM_024454086.1:c.11T>A XP_024309854.1:p.Leu4Ter
XM_024454087.1:c.11T>A XP_024309855.1:p.Leu4Ter
XM_024454088.1:c.11T>A XP_024309856.1:p.Leu4Ter
XM_024454089.1:c.-689T>A XP_024309857.1:n.-689T>A
NM_016648.4:c.248T>A MANE Select NP_057732.2:p.Leu83Ter
NM_001370974.1:c.248T>A NP_001357903.1:p.Leu83Ter
NM_001370975.1:c.248T>A NP_001357904.1:p.Leu83Ter
NM_001370976.1:c.248T>A NP_001357905.1:p.Leu83Ter
NM_001370977.1:c.248T>A NP_001357906.1:p.Leu83Ter
NM_001370978.1:c.248T>A NP_001357907.1:p.Leu83Ter
NM_001370979.1:c.248T>A NP_001357908.1:p.Leu83Ter
NM_001370980.1:c.248T>A NP_001357909.1:p.Leu83Ter
NM_001370981.1:c.11T>A NP_001357910.1:p.Leu4Ter
NM_001370982.1:c.11T>A NP_001357911.1:p.Leu4Ter
NM_001267039.2:c.269T>A NP_001253968.1:p.Leu90Ter
NM_015454.3:c.248T>A NP_056269.1:p.Leu83Ter
NM_001267039.4:c.248T>A NP_001253968.2:p.Leu83Ter