Canonical Allele Identifier: CA383027354

Gene: SORL1

Linked Data

• COSMIC: COSM4574120
• MyVariant Identifiers: chr11:g.121456972A>C (hg19) ; chr11:g.121586263A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586263A>C , CM000673.2:g.121586263A>C	GRCh38
NC_000011.9:g.121456972A>C , CM000673.1:g.121456972A>C	GRCh37
NC_000011.8:g.120962182A>C	NCBI36
NG_023313.1:g.139012A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3748A>C MANE Select	ENSP00000260197.6:p.Ile1250Leu
ENST00000260197.11:c.3748A>C	ENSP00000260197.6:p.Ile1250Leu
ENST00000525532.5:c.580A>C	ENSP00000434634.1:p.Ile194Leu
ENST00000532694.5:c.286A>C	ENSP00000432131.1:p.Ile96Leu
ENST00000534286.5:c.478A>C	ENSP00000436447.1:p.Ile160Leu
NM_003105.5:c.3748A>C	NP_003096.1:p.Ile1250Leu
XM_011542963.1:c.3634A>C	XP_011541265.1:p.Ile1212Leu
XM_011542964.1:c.3748A>C	XP_011541266.1:p.Ile1250Leu
XM_011542965.1:c.2209A>C	XP_011541267.1:p.Ile737Leu
XM_011542966.1:c.1108A>C	XP_011541268.1:p.Ile370Leu
XM_011542967.1:c.580A>C	XP_011541269.1:p.Ile194Leu
XM_011542963.3:c.3634A>C	XP_011541265.1:p.Ile1212Leu
XM_011542965.3:c.2209A>C	XP_011541267.1:p.Ile737Leu
XM_011542967.3:c.580A>C	XP_011541269.1:p.Ile194Leu
XM_017018169.2:c.3436A>C	XP_016873658.1:p.Ile1146Leu
XM_017018170.2:c.3223A>C	XP_016873659.1:p.Ile1075Leu
XM_017018171.1:c.3748A>C	XP_016873660.1:p.Ile1250Leu
XM_017018172.2:c.1108A>C	XP_016873661.1:p.Ile370Leu
NM_003105.6:c.3748A>C MANE Select	NP_003096.2:p.Ile1250Leu