Canonical Allele Identifier: CA383038395

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475831C>G (hg19) ; chr11:g.121605122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605122C>G , CM000673.2:g.121605122C>G	GRCh38
NC_000011.9:g.121475831C>G , CM000673.1:g.121475831C>G	GRCh37
NC_000011.8:g.120981041C>G	NCBI36
NG_023313.1:g.157871C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4661C>G MANE Select	ENSP00000260197.6:p.Thr1554Ser
ENST00000260197.11:c.4661C>G	ENSP00000260197.6:p.Thr1554Ser
ENST00000525532.5:c.1493C>G	ENSP00000434634.1:p.Thr498Ser
ENST00000527934.1:c.506C>G	ENSP00000435405.1:p.Thr169Ser
ENST00000532694.5:c.1199C>G	ENSP00000432131.1:p.Thr400Ser
ENST00000534286.5:c.1391C>G	ENSP00000436447.1:p.Thr464Ser
NM_003105.5:c.4661C>G	NP_003096.1:p.Thr1554Ser
XM_011542963.1:c.4547C>G	XP_011541265.1:p.Thr1516Ser
XM_011542964.1:c.4661C>G	XP_011541266.1:p.Thr1554Ser
XM_011542965.1:c.3122C>G	XP_011541267.1:p.Thr1041Ser
XM_011542966.1:c.2021C>G	XP_011541268.1:p.Thr674Ser
XM_011542967.1:c.1493C>G	XP_011541269.1:p.Thr498Ser
XM_011542963.3:c.4547C>G	XP_011541265.1:p.Thr1516Ser
XM_011542965.3:c.3122C>G	XP_011541267.1:p.Thr1041Ser
XM_011542967.3:c.1493C>G	XP_011541269.1:p.Thr498Ser
XM_017018169.2:c.4349C>G	XP_016873658.1:p.Thr1450Ser
XM_017018170.2:c.4136C>G	XP_016873659.1:p.Thr1379Ser
XM_017018171.1:c.4661C>G	XP_016873660.1:p.Thr1554Ser
XM_017018172.2:c.2021C>G	XP_016873661.1:p.Thr674Ser
NM_003105.6:c.4661C>G MANE Select	NP_003096.2:p.Thr1554Ser