Canonical Allele Identifier: CA477221661

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605129-C-T
• MyVariant Identifiers: chr11:g.121475838C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605129C>T , CM000673.2:g.121605129C>T	GRCh38
NC_000011.9:g.121475838C>T , CM000673.1:g.121475838C>T	GRCh37
NC_000011.8:g.120981048C>T	NCBI36
NG_023313.1:g.157878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4668C>T MANE Select	ENSP00000260197.6:p.Tyr1556=
ENST00000260197.11:c.4668C>T	ENSP00000260197.6:p.Tyr1556=
ENST00000525532.5:c.1500C>T	ENSP00000434634.1:p.Tyr500=
ENST00000527934.1:c.513C>T	ENSP00000435405.1:p.Tyr171=
ENST00000532694.5:c.1206C>T	ENSP00000432131.1:p.Tyr402=
ENST00000534286.5:c.1398C>T	ENSP00000436447.1:p.Tyr466=
NM_003105.5:c.4668C>T	NP_003096.1:p.Tyr1556=
XM_011542963.1:c.4554C>T	XP_011541265.1:p.Tyr1518=
XM_011542964.1:c.4668C>T	XP_011541266.1:p.Tyr1556=
XM_011542965.1:c.3129C>T	XP_011541267.1:p.Tyr1043=
XM_011542966.1:c.2028C>T	XP_011541268.1:p.Tyr676=
XM_011542967.1:c.1500C>T	XP_011541269.1:p.Tyr500=
XM_011542963.3:c.4554C>T	XP_011541265.1:p.Tyr1518=
XM_011542965.3:c.3129C>T	XP_011541267.1:p.Tyr1043=
XM_011542967.3:c.1500C>T	XP_011541269.1:p.Tyr500=
XM_017018169.2:c.4356C>T	XP_016873658.1:p.Tyr1452=
XM_017018170.2:c.4143C>T	XP_016873659.1:p.Tyr1381=
XM_017018171.1:c.4668C>T	XP_016873660.1:p.Tyr1556=
XM_017018172.2:c.2028C>T	XP_016873661.1:p.Tyr676=
NM_003105.6:c.4668C>T MANE Select	NP_003096.2:p.Tyr1556=