Canonical Allele Identifier: CA383035842

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121429382G>T (hg19) ; chr11:g.121558673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558673G>T , CM000673.2:g.121558673G>T	GRCh38
NC_000011.9:g.121429382G>T , CM000673.1:g.121429382G>T	GRCh37
NC_000011.8:g.120934592G>T	NCBI36
NG_023313.1:g.111422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2746G>T MANE Select	ENSP00000260197.6:p.Val916Leu
ENST00000260197.11:c.2746G>T	ENSP00000260197.6:p.Val916Leu
ENST00000524873.1:n.474G>T
ENST00000529445.1:n.452G>T
NM_003105.5:c.2746G>T	NP_003096.1:p.Val916Leu
XM_011542963.1:c.2746G>T	XP_011541265.1:p.Val916Leu
XM_011542964.1:c.2746G>T	XP_011541266.1:p.Val916Leu
XM_011542965.1:c.1207G>T	XP_011541267.1:p.Val403Leu
XM_011542966.1:c.106G>T	XP_011541268.1:p.Val36Leu
XM_011542963.3:c.2746G>T	XP_011541265.1:p.Val916Leu
XM_011542965.3:c.1207G>T	XP_011541267.1:p.Val403Leu
XM_017018169.2:c.2434G>T	XP_016873658.1:p.Val812Leu
XM_017018170.2:c.2221G>T	XP_016873659.1:p.Val741Leu
XM_017018171.1:c.2746G>T	XP_016873660.1:p.Val916Leu
XM_017018172.2:c.106G>T	XP_016873661.1:p.Val36Leu
NM_003105.6:c.2746G>T MANE Select	NP_003096.2:p.Val916Leu