Canonical Allele Identifier: CA229883253

Gene: SORL1

Linked Data

• dbSNP Id: rs568565368
• gnomAD v3: 11-121610573-G-T
• gnomAD v4: 11-121610573-G-T
• MyVariant Identifiers: chr11:g.121481282G>T (hg19) ; chr11:g.121610573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610573G>T , CM000673.2:g.121610573G>T	GRCh38
NC_000011.9:g.121481282G>T , CM000673.1:g.121481282G>T	GRCh37
NC_000011.8:g.120986492G>T	NCBI36
NG_023313.1:g.163322G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.5240-503G>T MANE Select	ENSP00000260197.6:n.5240-503G>T
ENST00000260197.11:c.5240-503G>T	ENSP00000260197.6:n.5240-503G>T
ENST00000525532.5:c.2072-503G>T	ENSP00000434634.1:n.2072-503G>T
ENST00000527934.1:c.1085-503G>T	ENSP00000435405.1:n.1085-503G>T
ENST00000528339.5:n.2374G>T
ENST00000532694.5:c.1778-503G>T	ENSP00000432131.1:n.1778-503G>T
ENST00000534286.5:c.1970-503G>T	ENSP00000436447.1:n.1970-503G>T
NM_003105.5:c.5240-503G>T	NP_003096.1:n.5240-503G>T
XM_011542963.1:c.5126-503G>T	XP_011541265.1:n.5126-503G>T
XM_011542964.1:c.*48-503G>T	XP_011541266.1:n.*48-503G>T
XM_011542965.1:c.3701-503G>T	XP_011541267.1:n.3701-503G>T
XM_011542966.1:c.2600-503G>T	XP_011541268.1:n.2600-503G>T
XM_011542967.1:c.2072-503G>T	XP_011541269.1:n.2072-503G>T
XM_011542963.3:c.5126-503G>T	XP_011541265.1:n.5126-503G>T
XM_011542965.3:c.3701-503G>T	XP_011541267.1:n.3701-503G>T
XM_011542967.3:c.2072-503G>T	XP_011541269.1:n.2072-503G>T
XM_017018169.2:c.4928-503G>T	XP_016873658.1:n.4928-503G>T
XM_017018170.2:c.4715-503G>T	XP_016873659.1:n.4715-503G>T
XM_017018171.1:c.*1089G>T	XP_016873660.1:n.*1089G>T
XM_017018172.2:c.2600-503G>T	XP_016873661.1:n.2600-503G>T
NM_003105.6:c.5240-503G>T MANE Select	NP_003096.2:n.5240-503G>T