Canonical Allele Identifier: CA2616500573

Gene: SORL1

Linked Data

• gnomAD v4: 11-121577548-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577548T>C , CM000673.2:g.121577548T>C	GRCh38
NC_000011.9:g.121448257T>C , CM000673.1:g.121448257T>C	GRCh37
NC_000011.8:g.120953467T>C	NCBI36
NG_023313.1:g.130297T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3580+148T>C MANE Select	ENSP00000260197.6:n.3580+148T>C
ENST00000260197.11:c.3580+148T>C	ENSP00000260197.6:n.3580+148T>C
ENST00000525532.5:c.412+148T>C	ENSP00000434634.1:n.412+148T>C
ENST00000532694.5:c.118+148T>C	ENSP00000432131.1:n.118+148T>C
ENST00000534286.5:c.310+148T>C	ENSP00000436447.1:n.310+148T>C
NM_003105.5:c.3580+148T>C	NP_003096.1:n.3580+148T>C
XM_011542963.1:c.3466+148T>C	XP_011541265.1:n.3466+148T>C
XM_011542964.1:c.3580+148T>C	XP_011541266.1:n.3580+148T>C
XM_011542965.1:c.2041+148T>C	XP_011541267.1:n.2041+148T>C
XM_011542966.1:c.940+148T>C	XP_011541268.1:n.940+148T>C
XM_011542967.1:c.412+148T>C	XP_011541269.1:n.412+148T>C
XM_011542963.3:c.3466+148T>C	XP_011541265.1:n.3466+148T>C
XM_011542965.3:c.2041+148T>C	XP_011541267.1:n.2041+148T>C
XM_011542967.3:c.412+148T>C	XP_011541269.1:n.412+148T>C
XM_017018169.2:c.3268+148T>C	XP_016873658.1:n.3268+148T>C
XM_017018170.2:c.3055+148T>C	XP_016873659.1:n.3055+148T>C
XM_017018171.1:c.3580+148T>C	XP_016873660.1:n.3580+148T>C
XM_017018172.2:c.940+148T>C	XP_016873661.1:n.940+148T>C
NM_003105.6:c.3580+148T>C MANE Select	NP_003096.2:n.3580+148T>C