Canonical Allele Identifier: CA2004929240
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121618760T= , CM000673.2:g.121618760T= GRCh38
NC_000011.9:g.121489469T= , CM000673.1:g.121489469T= GRCh37
NC_000011.8:g.120994679T= NCBI36
NG_023313.1:g.171509T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.5605-14T= MANE Select ENSP00000260197.6:n.5605-14T=
ENST00000260197.11:c.5605-14T= ENSP00000260197.6:n.5605-14T=
ENST00000524633.1:n.771-14T=
ENST00000525532.5:c.2437-14T= ENSP00000434634.1:n.2437-14T=
ENST00000527934.1:c.1450-14T= ENSP00000435405.1:n.1450-14T=
ENST00000528339.5:n.3242-14T=
ENST00000532694.5:c.2143-14T= ENSP00000432131.1:n.2143-14T=
ENST00000534286.5:c.2335-14T= ENSP00000436447.1:n.2335-14T=
ENST00000534754.5:n.1767-14T=
NM_003105.5:c.5605-14T= NP_003096.1:n.5605-14T=
XM_011542963.1:c.5491-14T= XP_011541265.1:n.5491-14T=
XM_011542965.1:c.4066-14T= XP_011541267.1:n.4066-14T=
XM_011542966.1:c.2965-14T= XP_011541268.1:n.2965-14T=
XM_011542967.1:c.2437-14T= XP_011541269.1:n.2437-14T=
XM_011542963.3:c.5491-14T= XP_011541265.1:n.5491-14T=
XM_011542965.3:c.4066-14T= XP_011541267.1:n.4066-14T=
XM_011542967.3:c.2437-14T= XP_011541269.1:n.2437-14T=
XM_017018169.2:c.5293-14T= XP_016873658.1:n.5293-14T=
XM_017018170.2:c.5080-14T= XP_016873659.1:n.5080-14T=
XM_017018172.2:c.2965-14T= XP_016873661.1:n.2965-14T=
NM_003105.6:c.5605-14T= MANE Select NP_003096.2:n.5605-14T=