Canonical Allele Identifier: CA383038912

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475937T>G (hg19) ; chr11:g.121605228T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605228T>G , CM000673.2:g.121605228T>G	GRCh38
NC_000011.9:g.121475937T>G , CM000673.1:g.121475937T>G	GRCh37
NC_000011.8:g.120981147T>G	NCBI36
NG_023313.1:g.157977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4767T>G MANE Select	ENSP00000260197.6:p.Asn1589Lys
ENST00000260197.11:c.4767T>G	ENSP00000260197.6:p.Asn1589Lys
ENST00000525532.5:c.1599T>G	ENSP00000434634.1:p.Asn533Lys
ENST00000527934.1:c.612T>G	ENSP00000435405.1:p.Asn204Lys
ENST00000532694.5:c.1305T>G	ENSP00000432131.1:p.Asn435Lys
ENST00000534286.5:c.1497T>G	ENSP00000436447.1:p.Asn499Lys
NM_003105.5:c.4767T>G	NP_003096.1:p.Asn1589Lys
XM_011542963.1:c.4653T>G	XP_011541265.1:p.Asn1551Lys
XM_011542964.1:c.4767T>G	XP_011541266.1:p.Asn1589Lys
XM_011542965.1:c.3228T>G	XP_011541267.1:p.Asn1076Lys
XM_011542966.1:c.2127T>G	XP_011541268.1:p.Asn709Lys
XM_011542967.1:c.1599T>G	XP_011541269.1:p.Asn533Lys
XM_011542963.3:c.4653T>G	XP_011541265.1:p.Asn1551Lys
XM_011542965.3:c.3228T>G	XP_011541267.1:p.Asn1076Lys
XM_011542967.3:c.1599T>G	XP_011541269.1:p.Asn533Lys
XM_017018169.2:c.4455T>G	XP_016873658.1:p.Asn1485Lys
XM_017018170.2:c.4242T>G	XP_016873659.1:p.Asn1414Lys
XM_017018171.1:c.4767T>G	XP_016873660.1:p.Asn1589Lys
XM_017018172.2:c.2127T>G	XP_016873661.1:p.Asn709Lys
NM_003105.6:c.4767T>G MANE Select	NP_003096.2:p.Asn1589Lys