Canonical Allele Identifier: CA383024900

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448071A>T (hg19) ; chr11:g.121577362A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577362A>T , CM000673.2:g.121577362A>T	GRCh38
NC_000011.9:g.121448071A>T , CM000673.1:g.121448071A>T	GRCh37
NC_000011.8:g.120953281A>T	NCBI36
NG_023313.1:g.130111A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3542A>T MANE Select	ENSP00000260197.6:p.Asn1181Ile
ENST00000260197.11:c.3542A>T	ENSP00000260197.6:p.Asn1181Ile
ENST00000525532.5:c.374A>T	ENSP00000434634.1:p.Asn125Ile
ENST00000532694.5:c.80A>T	ENSP00000432131.1:p.Asn27Ile
ENST00000534286.5:c.272A>T	ENSP00000436447.1:p.Asn91Ile
NM_003105.5:c.3542A>T	NP_003096.1:p.Asn1181Ile
XM_011542963.1:c.3428A>T	XP_011541265.1:p.Asn1143Ile
XM_011542964.1:c.3542A>T	XP_011541266.1:p.Asn1181Ile
XM_011542965.1:c.2003A>T	XP_011541267.1:p.Asn668Ile
XM_011542966.1:c.902A>T	XP_011541268.1:p.Asn301Ile
XM_011542967.1:c.374A>T	XP_011541269.1:p.Asn125Ile
XM_011542963.3:c.3428A>T	XP_011541265.1:p.Asn1143Ile
XM_011542965.3:c.2003A>T	XP_011541267.1:p.Asn668Ile
XM_011542967.3:c.374A>T	XP_011541269.1:p.Asn125Ile
XM_017018169.2:c.3230A>T	XP_016873658.1:p.Asn1077Ile
XM_017018170.2:c.3017A>T	XP_016873659.1:p.Asn1006Ile
XM_017018171.1:c.3542A>T	XP_016873660.1:p.Asn1181Ile
XM_017018172.2:c.902A>T	XP_016873661.1:p.Asn301Ile
NM_003105.6:c.3542A>T MANE Select	NP_003096.2:p.Asn1181Ile