Canonical Allele Identifier: CA602238674
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1300802167

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121610640C>G , CM000673.2:g.121610640C>G GRCh38
NC_000011.9:g.121481349C>G , CM000673.1:g.121481349C>G GRCh37
NC_000011.8:g.120986559C>G NCBI36
NG_023313.1:g.163389C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.5240-436C>G MANE Select ENSP00000260197.6:n.5240-436C>G
ENST00000260197.11:c.5240-436C>G ENSP00000260197.6:n.5240-436C>G
ENST00000525532.5:c.2072-436C>G ENSP00000434634.1:n.2072-436C>G
ENST00000527934.1:c.1085-436C>G ENSP00000435405.1:n.1085-436C>G
ENST00000528339.5:n.2441C>G
ENST00000532694.5:c.1778-436C>G ENSP00000432131.1:n.1778-436C>G
ENST00000534286.5:c.1970-436C>G ENSP00000436447.1:n.1970-436C>G
NM_003105.5:c.5240-436C>G NP_003096.1:n.5240-436C>G
XM_011542963.1:c.5126-436C>G XP_011541265.1:n.5126-436C>G
XM_011542964.1:c.*48-436C>G XP_011541266.1:n.*48-436C>G
XM_011542965.1:c.3701-436C>G XP_011541267.1:n.3701-436C>G
XM_011542966.1:c.2600-436C>G XP_011541268.1:n.2600-436C>G
XM_011542967.1:c.2072-436C>G XP_011541269.1:n.2072-436C>G
XM_011542963.3:c.5126-436C>G XP_011541265.1:n.5126-436C>G
XM_011542965.3:c.3701-436C>G XP_011541267.1:n.3701-436C>G
XM_011542967.3:c.2072-436C>G XP_011541269.1:n.2072-436C>G
XM_017018169.2:c.4928-436C>G XP_016873658.1:n.4928-436C>G
XM_017018170.2:c.4715-436C>G XP_016873659.1:n.4715-436C>G
XM_017018171.1:c.*1156C>G XP_016873660.1:n.*1156C>G
XM_017018172.2:c.2600-436C>G XP_016873661.1:n.2600-436C>G
NM_003105.6:c.5240-436C>G MANE Select NP_003096.2:n.5240-436C>G