Canonical Allele Identifier: CA383038854

Gene: SORL1

Linked Data

• COSMIC: COSM4496444
• MyVariant Identifiers: chr11:g.121475924C>T (hg19) ; chr11:g.121605215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605215C>T , CM000673.2:g.121605215C>T	GRCh38
NC_000011.9:g.121475924C>T , CM000673.1:g.121475924C>T	GRCh37
NC_000011.8:g.120981134C>T	NCBI36
NG_023313.1:g.157964C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4754C>T MANE Select	ENSP00000260197.6:p.Ser1585Phe
ENST00000260197.11:c.4754C>T	ENSP00000260197.6:p.Ser1585Phe
ENST00000525532.5:c.1586C>T	ENSP00000434634.1:p.Ser529Phe
ENST00000527934.1:c.599C>T	ENSP00000435405.1:p.Ser200Phe
ENST00000532694.5:c.1292C>T	ENSP00000432131.1:p.Ser431Phe
ENST00000534286.5:c.1484C>T	ENSP00000436447.1:p.Ser495Phe
NM_003105.5:c.4754C>T	NP_003096.1:p.Ser1585Phe
XM_011542963.1:c.4640C>T	XP_011541265.1:p.Ser1547Phe
XM_011542964.1:c.4754C>T	XP_011541266.1:p.Ser1585Phe
XM_011542965.1:c.3215C>T	XP_011541267.1:p.Ser1072Phe
XM_011542966.1:c.2114C>T	XP_011541268.1:p.Ser705Phe
XM_011542967.1:c.1586C>T	XP_011541269.1:p.Ser529Phe
XM_011542963.3:c.4640C>T	XP_011541265.1:p.Ser1547Phe
XM_011542965.3:c.3215C>T	XP_011541267.1:p.Ser1072Phe
XM_011542967.3:c.1586C>T	XP_011541269.1:p.Ser529Phe
XM_017018169.2:c.4442C>T	XP_016873658.1:p.Ser1481Phe
XM_017018170.2:c.4229C>T	XP_016873659.1:p.Ser1410Phe
XM_017018171.1:c.4754C>T	XP_016873660.1:p.Ser1585Phe
XM_017018172.2:c.2114C>T	XP_016873661.1:p.Ser705Phe
NM_003105.6:c.4754C>T MANE Select	NP_003096.2:p.Ser1585Phe