Canonical Allele Identifier: CA13400134

Gene: SORL1

Linked Data

• dbSNP Id: rs1699103
• gnomAD v2: 11-121451926-T-C
• gnomAD v3: 11-121581217-T-C
• gnomAD v4: 11-121581217-T-C
• MyVariant Identifiers: chr11:g.121451926T>C (hg19) ; chr11:g.121581217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121581217T>C , CM000673.2:g.121581217T>C	GRCh38
NC_000011.9:g.121451926T>C , CM000673.1:g.121451926T>C	GRCh37
NC_000011.8:g.120957136T>C	NCBI36
NG_023313.1:g.133966T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3581-2241T>C MANE Select	ENSP00000260197.6:n.3581-2241T>C
ENST00000260197.11:c.3581-2241T>C	ENSP00000260197.6:n.3581-2241T>C
ENST00000525532.5:c.413-2241T>C	ENSP00000434634.1:n.413-2241T>C
ENST00000532694.5:c.119-2241T>C	ENSP00000432131.1:n.119-2241T>C
ENST00000534286.5:c.311-2241T>C	ENSP00000436447.1:n.311-2241T>C
NM_003105.5:c.3581-2241T>C	NP_003096.1:n.3581-2241T>C
XM_011542963.1:c.3467-2241T>C	XP_011541265.1:n.3467-2241T>C
XM_011542964.1:c.3581-2241T>C	XP_011541266.1:n.3581-2241T>C
XM_011542965.1:c.2042-2241T>C	XP_011541267.1:n.2042-2241T>C
XM_011542966.1:c.941-2241T>C	XP_011541268.1:n.941-2241T>C
XM_011542967.1:c.413-2241T>C	XP_011541269.1:n.413-2241T>C
XM_011542963.3:c.3467-2241T>C	XP_011541265.1:n.3467-2241T>C
XM_011542965.3:c.2042-2241T>C	XP_011541267.1:n.2042-2241T>C
XM_011542967.3:c.413-2241T>C	XP_011541269.1:n.413-2241T>C
XM_017018169.2:c.3269-2241T>C	XP_016873658.1:n.3269-2241T>C
XM_017018170.2:c.3056-2241T>C	XP_016873659.1:n.3056-2241T>C
XM_017018171.1:c.3581-2241T>C	XP_016873660.1:n.3581-2241T>C
XM_017018172.2:c.941-2241T>C	XP_016873661.1:n.941-2241T>C
NM_003105.6:c.3581-2241T>C MANE Select	NP_003096.2:n.3581-2241T>C