Canonical Allele Identifier: CA14981572

Gene: LARGE1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33170601C>T , CM000684.2:g.33170601C>T	GRCh38
NC_000022.10:g.33566587C>T , CM000684.1:g.33566587C>T	GRCh37
NC_000022.9:g.31896587C>T	NCBI36
NG_009929.2:g.754828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608642.6:c.1731-3769G>A	ENSP00000476866.2:n.1731-3769G>A
ENST00000609799.6:c.1452-3769G>A	ENSP00000476415.2:n.1452-3769G>A
ENST00000610186.6:c.1878-3769G>A	ENSP00000476364.2:n.1878-3769G>A
ENST00000674562.1:n.115-3769G>A
ENST00000676217.1:n.104-3769G>A
ENST00000421232.1:n.151-3769G>A
ENST00000608642.5:c.762-3769G>A	ENSP00000476866.1:n.762-3769G>A
ENST00000609799.5:c.483-3769G>A	ENSP00000476415.1:n.483-3769G>A
ENST00000610186.5:c.909-3769G>A	ENSP00000476364.1:n.909-3769G>A
XR_938180.1:n.158-3769G>A
XR_938181.1:n.158-3769G>A
XM_024452302.1:c.1878-3769G>A	XP_024308070.1:n.1878-3769G>A
XR_002958722.1:n.1925-3769G>A