Canonical Allele Identifier: CA383038904

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475934T>A (hg19) ; chr11:g.121605225T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605225T>A , CM000673.2:g.121605225T>A	GRCh38
NC_000011.9:g.121475934T>A , CM000673.1:g.121475934T>A	GRCh37
NC_000011.8:g.120981144T>A	NCBI36
NG_023313.1:g.157974T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4764T>A MANE Select	ENSP00000260197.6:p.Tyr1588Ter
ENST00000260197.11:c.4764T>A	ENSP00000260197.6:p.Tyr1588Ter
ENST00000525532.5:c.1596T>A	ENSP00000434634.1:p.Tyr532Ter
ENST00000527934.1:c.609T>A	ENSP00000435405.1:p.Tyr203Ter
ENST00000532694.5:c.1302T>A	ENSP00000432131.1:p.Tyr434Ter
ENST00000534286.5:c.1494T>A	ENSP00000436447.1:p.Tyr498Ter
NM_003105.5:c.4764T>A	NP_003096.1:p.Tyr1588Ter
XM_011542963.1:c.4650T>A	XP_011541265.1:p.Tyr1550Ter
XM_011542964.1:c.4764T>A	XP_011541266.1:p.Tyr1588Ter
XM_011542965.1:c.3225T>A	XP_011541267.1:p.Tyr1075Ter
XM_011542966.1:c.2124T>A	XP_011541268.1:p.Tyr708Ter
XM_011542967.1:c.1596T>A	XP_011541269.1:p.Tyr532Ter
XM_011542963.3:c.4650T>A	XP_011541265.1:p.Tyr1550Ter
XM_011542965.3:c.3225T>A	XP_011541267.1:p.Tyr1075Ter
XM_011542967.3:c.1596T>A	XP_011541269.1:p.Tyr532Ter
XM_017018169.2:c.4452T>A	XP_016873658.1:p.Tyr1484Ter
XM_017018170.2:c.4239T>A	XP_016873659.1:p.Tyr1413Ter
XM_017018171.1:c.4764T>A	XP_016873660.1:p.Tyr1588Ter
XM_017018172.2:c.2124T>A	XP_016873661.1:p.Tyr708Ter
NM_003105.6:c.4764T>A MANE Select	NP_003096.2:p.Tyr1588Ter