Canonical Allele Identifier: CA6329909
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1010159

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121612692C>T , CM000673.2:g.121612692C>T GRCh38
NC_000011.9:g.121483401C>T , CM000673.1:g.121483401C>T GRCh37
NC_000011.8:g.120988611C>T NCBI36
NG_023313.1:g.165441C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.5323-44C>T MANE Select ENSP00000260197.6:n.5323-44C>T
ENST00000260197.11:c.5323-44C>T ENSP00000260197.6:n.5323-44C>T
ENST00000525532.5:c.2155-44C>T ENSP00000434634.1:n.2155-44C>T
ENST00000527934.1:c.1168-44C>T ENSP00000435405.1:n.1168-44C>T
ENST00000528339.5:n.2960-44C>T
ENST00000532694.5:c.1861-44C>T ENSP00000432131.1:n.1861-44C>T
ENST00000534286.5:c.2053-44C>T ENSP00000436447.1:n.2053-44C>T
ENST00000534754.5:n.1441C>T
NM_003105.5:c.5323-44C>T NP_003096.1:n.5323-44C>T
XM_011542963.1:c.5209-44C>T XP_011541265.1:n.5209-44C>T
XM_011542965.1:c.3784-44C>T XP_011541267.1:n.3784-44C>T
XM_011542966.1:c.2683-44C>T XP_011541268.1:n.2683-44C>T
XM_011542967.1:c.2155-44C>T XP_011541269.1:n.2155-44C>T
XM_011542963.3:c.5209-44C>T XP_011541265.1:n.5209-44C>T
XM_011542965.3:c.3784-44C>T XP_011541267.1:n.3784-44C>T
XM_011542967.3:c.2155-44C>T XP_011541269.1:n.2155-44C>T
XM_017018169.2:c.5011-44C>T XP_016873658.1:n.5011-44C>T
XM_017018170.2:c.4798-44C>T XP_016873659.1:n.4798-44C>T
XM_017018172.2:c.2683-44C>T XP_016873661.1:n.2683-44C>T
NM_003105.6:c.5323-44C>T MANE Select NP_003096.2:n.5323-44C>T