Canonical Allele Identifier: CA10736170
Gene: SORT1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.109313684G>A
GRCh37 chr1:g.109856306G>A
gnomAD v2:
1:109856306 G / A
gnomAD v3:
1:109313684 G / A
gnomAD v4:
chr1-109313684-G-A
Joint Max Group AF 0.61057702 (EAS)
Genomes Max Group AF 0.59416741 (EAS)
Exomes Max Group AF 0.61524248 (EAS)
dbSNP:
464218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109313684G>A , CM000663.2:g.109313684G>A GRCh38
NC_000001.10:g.109856306G>A , CM000663.1:g.109856306G>A GRCh37
NC_000001.9:g.109657829G>A NCBI36
NG_028280.1:g.89258C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256637.8:c.*359C>T MANE Select ENSP00000256637.6:n.*359C>T
ENST00000256637.7:c.*359C>T ENSP00000256637.6:n.*359C>T
ENST00000538502.5:c.*359C>T ENSP00000438597.1:n.*359C>T
NM_001205228.1:c.*359C>T NP_001192157.1:n.*359C>T
NM_002959.5:c.*359C>T NP_002950.3:n.*359C>T
NM_002959.6:c.*359C>T NP_002950.3:n.*359C>T
XM_005271100.2:c.*359C>T XP_005271157.1:n.*359C>T
XM_005271101.1:c.*359C>T XP_005271158.1:n.*359C>T
XM_005271102.1:c.*359C>T XP_005271159.1:n.*359C>T
XM_006710812.1:c.*359C>T XP_006710875.1:n.*359C>T
XM_005271101.3:c.*359C>T XP_005271158.1:n.*359C>T
XM_005271102.2:c.*359C>T XP_005271159.1:n.*359C>T
XM_006710812.2:c.*359C>T XP_006710875.1:n.*359C>T
NM_002959.7:c.*359C>T MANE Select NP_002950.3:n.*359C>T
NM_001205228.2:c.*359C>T NP_001192157.1:n.*359C>T
Search 100 bp 5'
Search 100 bp 3'