Canonical Allele Identifier: CA477221765

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605216-T-C
• MyVariant Identifiers: chr11:g.121475925T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605216T>C , CM000673.2:g.121605216T>C	GRCh38
NC_000011.9:g.121475925T>C , CM000673.1:g.121475925T>C	GRCh37
NC_000011.8:g.120981135T>C	NCBI36
NG_023313.1:g.157965T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4755T>C MANE Select	ENSP00000260197.6:p.Ser1585=
ENST00000260197.11:c.4755T>C	ENSP00000260197.6:p.Ser1585=
ENST00000525532.5:c.1587T>C	ENSP00000434634.1:p.Ser529=
ENST00000527934.1:c.600T>C	ENSP00000435405.1:p.Ser200=
ENST00000532694.5:c.1293T>C	ENSP00000432131.1:p.Ser431=
ENST00000534286.5:c.1485T>C	ENSP00000436447.1:p.Ser495=
NM_003105.5:c.4755T>C	NP_003096.1:p.Ser1585=
XM_011542963.1:c.4641T>C	XP_011541265.1:p.Ser1547=
XM_011542964.1:c.4755T>C	XP_011541266.1:p.Ser1585=
XM_011542965.1:c.3216T>C	XP_011541267.1:p.Ser1072=
XM_011542966.1:c.2115T>C	XP_011541268.1:p.Ser705=
XM_011542967.1:c.1587T>C	XP_011541269.1:p.Ser529=
XM_011542963.3:c.4641T>C	XP_011541265.1:p.Ser1547=
XM_011542965.3:c.3216T>C	XP_011541267.1:p.Ser1072=
XM_011542967.3:c.1587T>C	XP_011541269.1:p.Ser529=
XM_017018169.2:c.4443T>C	XP_016873658.1:p.Ser1481=
XM_017018170.2:c.4230T>C	XP_016873659.1:p.Ser1410=
XM_017018171.1:c.4755T>C	XP_016873660.1:p.Ser1585=
XM_017018172.2:c.2115T>C	XP_016873661.1:p.Ser705=
NM_003105.6:c.4755T>C MANE Select	NP_003096.2:p.Ser1585=