Canonical Allele Identifier: CA477221769

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475931A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605222A>T , CM000673.2:g.121605222A>T	GRCh38
NC_000011.9:g.121475931A>T , CM000673.1:g.121475931A>T	GRCh37
NC_000011.8:g.120981141A>T	NCBI36
NG_023313.1:g.157971A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4761A>T MANE Select	ENSP00000260197.6:p.Val1587=
ENST00000260197.11:c.4761A>T	ENSP00000260197.6:p.Val1587=
ENST00000525532.5:c.1593A>T	ENSP00000434634.1:p.Val531=
ENST00000527934.1:c.606A>T	ENSP00000435405.1:p.Val202=
ENST00000532694.5:c.1299A>T	ENSP00000432131.1:p.Val433=
ENST00000534286.5:c.1491A>T	ENSP00000436447.1:p.Val497=
NM_003105.5:c.4761A>T	NP_003096.1:p.Val1587=
XM_011542963.1:c.4647A>T	XP_011541265.1:p.Val1549=
XM_011542964.1:c.4761A>T	XP_011541266.1:p.Val1587=
XM_011542965.1:c.3222A>T	XP_011541267.1:p.Val1074=
XM_011542966.1:c.2121A>T	XP_011541268.1:p.Val707=
XM_011542967.1:c.1593A>T	XP_011541269.1:p.Val531=
XM_011542963.3:c.4647A>T	XP_011541265.1:p.Val1549=
XM_011542965.3:c.3222A>T	XP_011541267.1:p.Val1074=
XM_011542967.3:c.1593A>T	XP_011541269.1:p.Val531=
XM_017018169.2:c.4449A>T	XP_016873658.1:p.Val1483=
XM_017018170.2:c.4236A>T	XP_016873659.1:p.Val1412=
XM_017018171.1:c.4761A>T	XP_016873660.1:p.Val1587=
XM_017018172.2:c.2121A>T	XP_016873661.1:p.Val707=
NM_003105.6:c.4761A>T MANE Select	NP_003096.2:p.Val1587=