Canonical Allele Identifier: CA6329392

Gene: SORL1

Linked Data

• dbSNP Id: rs758601174
• ExAC: 11:121456973 T / C
• gnomAD v2: 11-121456973-T-C
• gnomAD v4: 11-121586264-T-C
• MyVariant Identifiers: chr11:g.121456973T>C (hg19) ; chr11:g.121586264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586264T>C , CM000673.2:g.121586264T>C	GRCh38
NC_000011.9:g.121456973T>C , CM000673.1:g.121456973T>C	GRCh37
NC_000011.8:g.120962183T>C	NCBI36
NG_023313.1:g.139013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3749T>C MANE Select	ENSP00000260197.6:p.Ile1250Thr
ENST00000260197.11:c.3749T>C	ENSP00000260197.6:p.Ile1250Thr
ENST00000525532.5:c.581T>C	ENSP00000434634.1:p.Ile194Thr
ENST00000532694.5:c.287T>C	ENSP00000432131.1:p.Ile96Thr
ENST00000534286.5:c.479T>C	ENSP00000436447.1:p.Ile160Thr
NM_003105.5:c.3749T>C	NP_003096.1:p.Ile1250Thr
XM_011542963.1:c.3635T>C	XP_011541265.1:p.Ile1212Thr
XM_011542964.1:c.3749T>C	XP_011541266.1:p.Ile1250Thr
XM_011542965.1:c.2210T>C	XP_011541267.1:p.Ile737Thr
XM_011542966.1:c.1109T>C	XP_011541268.1:p.Ile370Thr
XM_011542967.1:c.581T>C	XP_011541269.1:p.Ile194Thr
XM_011542963.3:c.3635T>C	XP_011541265.1:p.Ile1212Thr
XM_011542965.3:c.2210T>C	XP_011541267.1:p.Ile737Thr
XM_011542967.3:c.581T>C	XP_011541269.1:p.Ile194Thr
XM_017018169.2:c.3437T>C	XP_016873658.1:p.Ile1146Thr
XM_017018170.2:c.3224T>C	XP_016873659.1:p.Ile1075Thr
XM_017018171.1:c.3749T>C	XP_016873660.1:p.Ile1250Thr
XM_017018172.2:c.1109T>C	XP_016873661.1:p.Ile370Thr
NM_003105.6:c.3749T>C MANE Select	NP_003096.2:p.Ile1250Thr