Canonical Allele Identifier: CA477221771

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475937T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4767T>C MANE Select	ENSP00000260197.6:p.Asn1589=
ENST00000260197.11:c.4767T>C	ENSP00000260197.6:p.Asn1589=
ENST00000525532.5:c.1599T>C	ENSP00000434634.1:p.Asn533=
ENST00000527934.1:c.612T>C	ENSP00000435405.1:p.Asn204=
ENST00000532694.5:c.1305T>C	ENSP00000432131.1:p.Asn435=
ENST00000534286.5:c.1497T>C	ENSP00000436447.1:p.Asn499=
NM_003105.5:c.4767T>C	NP_003096.1:p.Asn1589=
XM_011542963.1:c.4653T>C	XP_011541265.1:p.Asn1551=
XM_011542964.1:c.4767T>C	XP_011541266.1:p.Asn1589=
XM_011542965.1:c.3228T>C	XP_011541267.1:p.Asn1076=
XM_011542966.1:c.2127T>C	XP_011541268.1:p.Asn709=
XM_011542967.1:c.1599T>C	XP_011541269.1:p.Asn533=
XM_011542963.3:c.4653T>C	XP_011541265.1:p.Asn1551=
XM_011542965.3:c.3228T>C	XP_011541267.1:p.Asn1076=
XM_011542967.3:c.1599T>C	XP_011541269.1:p.Asn533=
XM_017018169.2:c.4455T>C	XP_016873658.1:p.Asn1485=
XM_017018170.2:c.4242T>C	XP_016873659.1:p.Asn1414=
XM_017018171.1:c.4767T>C	XP_016873660.1:p.Asn1589=
XM_017018172.2:c.2127T>C	XP_016873661.1:p.Asn709=
NM_003105.6:c.4767T>C MANE Select	NP_003096.2:p.Asn1589=