Canonical Allele Identifier: CA383024938

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448086G>T (hg19) ; chr11:g.121577377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577377G>T , CM000673.2:g.121577377G>T	GRCh38
NC_000011.9:g.121448086G>T , CM000673.1:g.121448086G>T	GRCh37
NC_000011.8:g.120953296G>T	NCBI36
NG_023313.1:g.130126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3557G>T MANE Select	ENSP00000260197.6:p.Trp1186Leu
ENST00000260197.11:c.3557G>T	ENSP00000260197.6:p.Trp1186Leu
ENST00000525532.5:c.389G>T	ENSP00000434634.1:p.Trp130Leu
ENST00000532694.5:c.95G>T	ENSP00000432131.1:p.Trp32Leu
ENST00000534286.5:c.287G>T	ENSP00000436447.1:p.Trp96Leu
NM_003105.5:c.3557G>T	NP_003096.1:p.Trp1186Leu
XM_011542963.1:c.3443G>T	XP_011541265.1:p.Trp1148Leu
XM_011542964.1:c.3557G>T	XP_011541266.1:p.Trp1186Leu
XM_011542965.1:c.2018G>T	XP_011541267.1:p.Trp673Leu
XM_011542966.1:c.917G>T	XP_011541268.1:p.Trp306Leu
XM_011542967.1:c.389G>T	XP_011541269.1:p.Trp130Leu
XM_011542963.3:c.3443G>T	XP_011541265.1:p.Trp1148Leu
XM_011542965.3:c.2018G>T	XP_011541267.1:p.Trp673Leu
XM_011542967.3:c.389G>T	XP_011541269.1:p.Trp130Leu
XM_017018169.2:c.3245G>T	XP_016873658.1:p.Trp1082Leu
XM_017018170.2:c.3032G>T	XP_016873659.1:p.Trp1011Leu
XM_017018171.1:c.3557G>T	XP_016873660.1:p.Trp1186Leu
XM_017018172.2:c.917G>T	XP_016873661.1:p.Trp306Leu
NM_003105.6:c.3557G>T MANE Select	NP_003096.2:p.Trp1186Leu