Canonical Allele Identifier: CA229873667

Gene: SORL1

Linked Data

• dbSNP Id: rs144431502
• gnomAD v2: 11-121475946-C-T
• gnomAD v3: 11-121605237-C-T
• gnomAD v4: 11-121605237-C-T
• MyVariant Identifiers: chr11:g.121475946C>T (hg19) ; chr11:g.121605237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605237C>T , CM000673.2:g.121605237C>T	GRCh38
NC_000011.9:g.121475946C>T , CM000673.1:g.121475946C>T	GRCh37
NC_000011.8:g.120981156C>T	NCBI36
NG_023313.1:g.157986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4776C>T MANE Select	ENSP00000260197.6:p.Tyr1592=
ENST00000260197.11:c.4776C>T	ENSP00000260197.6:p.Tyr1592=
ENST00000525532.5:c.1608C>T	ENSP00000434634.1:p.Tyr536=
ENST00000527934.1:c.621C>T	ENSP00000435405.1:p.Tyr207=
ENST00000532694.5:c.1314C>T	ENSP00000432131.1:p.Tyr438=
ENST00000534286.5:c.1506C>T	ENSP00000436447.1:p.Tyr502=
NM_003105.5:c.4776C>T	NP_003096.1:p.Tyr1592=
XM_011542963.1:c.4662C>T	XP_011541265.1:p.Tyr1554=
XM_011542964.1:c.4776C>T	XP_011541266.1:p.Tyr1592=
XM_011542965.1:c.3237C>T	XP_011541267.1:p.Tyr1079=
XM_011542966.1:c.2136C>T	XP_011541268.1:p.Tyr712=
XM_011542967.1:c.1608C>T	XP_011541269.1:p.Tyr536=
XM_011542963.3:c.4662C>T	XP_011541265.1:p.Tyr1554=
XM_011542965.3:c.3237C>T	XP_011541267.1:p.Tyr1079=
XM_011542967.3:c.1608C>T	XP_011541269.1:p.Tyr536=
XM_017018169.2:c.4464C>T	XP_016873658.1:p.Tyr1488=
XM_017018170.2:c.4251C>T	XP_016873659.1:p.Tyr1417=
XM_017018171.1:c.4776C>T	XP_016873660.1:p.Tyr1592=
XM_017018172.2:c.2136C>T	XP_016873661.1:p.Tyr712=
NM_003105.6:c.4776C>T MANE Select	NP_003096.2:p.Tyr1592=