Canonical Allele Identifier: CA477221774

Gene: SORL1

Linked Data

• dbSNP Id: rs1370996794
• gnomAD v4: 11-121605234-C-T
• MyVariant Identifiers: chr11:g.121475943C>T (hg19) ; chr11:g.121605234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605234C>T , CM000673.2:g.121605234C>T	GRCh38
NC_000011.9:g.121475943C>T , CM000673.1:g.121475943C>T	GRCh37
NC_000011.8:g.120981153C>T	NCBI36
NG_023313.1:g.157983C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4773C>T MANE Select	ENSP00000260197.6:p.Tyr1591=
ENST00000260197.11:c.4773C>T	ENSP00000260197.6:p.Tyr1591=
ENST00000525532.5:c.1605C>T	ENSP00000434634.1:p.Tyr535=
ENST00000527934.1:c.618C>T	ENSP00000435405.1:p.Tyr206=
ENST00000532694.5:c.1311C>T	ENSP00000432131.1:p.Tyr437=
ENST00000534286.5:c.1503C>T	ENSP00000436447.1:p.Tyr501=
NM_003105.5:c.4773C>T	NP_003096.1:p.Tyr1591=
XM_011542963.1:c.4659C>T	XP_011541265.1:p.Tyr1553=
XM_011542964.1:c.4773C>T	XP_011541266.1:p.Tyr1591=
XM_011542965.1:c.3234C>T	XP_011541267.1:p.Tyr1078=
XM_011542966.1:c.2133C>T	XP_011541268.1:p.Tyr711=
XM_011542967.1:c.1605C>T	XP_011541269.1:p.Tyr535=
XM_011542963.3:c.4659C>T	XP_011541265.1:p.Tyr1553=
XM_011542965.3:c.3234C>T	XP_011541267.1:p.Tyr1078=
XM_011542967.3:c.1605C>T	XP_011541269.1:p.Tyr535=
XM_017018169.2:c.4461C>T	XP_016873658.1:p.Tyr1487=
XM_017018170.2:c.4248C>T	XP_016873659.1:p.Tyr1416=
XM_017018171.1:c.4773C>T	XP_016873660.1:p.Tyr1591=
XM_017018172.2:c.2133C>T	XP_016873661.1:p.Tyr711=
NM_003105.6:c.4773C>T MANE Select	NP_003096.2:p.Tyr1591=