Canonical Allele Identifier: CA654461658

Gene: SORL1

Linked Data

• COSMIC: COSN21719584

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505173A>C , CM000673.2:g.121505173A>C	GRCh38
NC_000011.9:g.121375882A>C , CM000673.1:g.121375882A>C	GRCh37
NC_000011.8:g.120881092A>C	NCBI36
NG_023313.1:g.57922A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.940-7830A>C MANE Select	ENSP00000260197.6:n.940-7830A>C
ENST00000260197.11:c.940-7830A>C	ENSP00000260197.6:n.940-7830A>C
ENST00000532451.1:n.892-7830A>C
NM_003105.5:c.940-7830A>C	NP_003096.1:n.940-7830A>C
XM_011542963.1:c.940-7830A>C	XP_011541265.1:n.940-7830A>C
XM_011542964.1:c.940-7830A>C	XP_011541266.1:n.940-7830A>C
XM_011542963.3:c.940-7830A>C	XP_011541265.1:n.940-7830A>C
XM_011542965.3:c.-683-7830A>C	XP_011541267.1:n.-683-7830A>C
XM_017018169.2:c.628-7830A>C	XP_016873658.1:n.628-7830A>C
XM_017018170.2:c.415-7830A>C	XP_016873659.1:n.415-7830A>C
XM_017018171.1:c.940-7830A>C	XP_016873660.1:n.940-7830A>C
NM_003105.6:c.940-7830A>C MANE Select	NP_003096.2:n.940-7830A>C