Canonical Allele Identifier: CA229908237

Gene: SORL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121564878T>C , CM000673.2:g.121564878T>C	GRCh38
NC_000011.9:g.121435587T>C , CM000673.1:g.121435587T>C	GRCh37
NC_000011.8:g.120940797T>C	NCBI36
NG_023313.1:g.117627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3050-2062T>C MANE Select	ENSP00000260197.6:n.3050-2062T>C
ENST00000260197.11:c.3050-2062T>C	ENSP00000260197.6:n.3050-2062T>C
NM_003105.5:c.3050-2062T>C	NP_003096.1:n.3050-2062T>C
XM_011542963.1:c.3050-2062T>C	XP_011541265.1:n.3050-2062T>C
XM_011542964.1:c.3050-2062T>C	XP_011541266.1:n.3050-2062T>C
XM_011542965.1:c.1511-2062T>C	XP_011541267.1:n.1511-2062T>C
XM_011542966.1:c.410-2062T>C	XP_011541268.1:n.410-2062T>C
XM_011542963.3:c.3050-2062T>C	XP_011541265.1:n.3050-2062T>C
XM_011542965.3:c.1511-2062T>C	XP_011541267.1:n.1511-2062T>C
XM_017018169.2:c.2738-2062T>C	XP_016873658.1:n.2738-2062T>C
XM_017018170.2:c.2525-2062T>C	XP_016873659.1:n.2525-2062T>C
XM_017018171.1:c.3050-2062T>C	XP_016873660.1:n.3050-2062T>C
XM_017018172.2:c.410-2062T>C	XP_016873661.1:n.410-2062T>C
NM_003105.6:c.3050-2062T>C MANE Select	NP_003096.2:n.3050-2062T>C