Canonical Allele Identifier: CA14925048
Gene: LARGE1 HGNC NCBI

Linked Data

dbSNP Id: rs743793
gnomAD v2: 22-33561746-T-C
gnomAD v3: 22-33165760-T-C
gnomAD v4: 22-33165760-T-C
MyVariant Identifiers: chr22:g.33561746T>C (hg19) chr22:g.33165760T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.33165760T>C , CM000684.2:g.33165760T>C GRCh38
NC_000022.10:g.33561746T>C , CM000684.1:g.33561746T>C GRCh37
NC_000022.9:g.31891746T>C NCBI36
NG_009929.2:g.759669A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000608642.6:c.2803A>G ENSP00000476866.2:n.2803A>G
ENST00000609799.6:c.2524A>G ENSP00000476415.2:n.2524A>G
ENST00000610186.6:c.2950A>G ENSP00000476364.2:n.2950A>G
ENST00000674562.1:n.311+876A>G
ENST00000676217.1:n.300+876A>G
ENST00000608642.5:c.1834A>G ENSP00000476866.1:n.1834A>G
XR_938180.1:n.354+876A>G
XR_938181.1:n.354+876A>G
XM_024452302.1:c.*1003A>G XP_024308070.1:n.*1003A>G
XR_002958722.1:n.2121+876A>G
Search 100 bp 5'
Search 100 bp 3'