Canonical Allele Identifier: CA2408728023

Gene: CELSR1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46399244C>T , CM000684.2:g.46399244C>T	GRCh38
NC_000022.10:g.46795141C>T , CM000684.1:g.46795141C>T	GRCh37
NC_000022.9:g.45173805C>T	NCBI36
NG_030466.1:g.142927G>A
NG_030466.2:g.142927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262738.9:c.5412+473G>A	ENSP00000262738.3:n.5412+473G>A
ENST00000674341.1:n.489+473G>A
ENST00000674359.1:c.425+473G>A
ENST00000674500.2:c.5412+473G>A MANE Select	ENSP00000501367.2:n.5412+473G>A
ENST00000262738.7:c.5412+473G>A	ENSP00000262738.3:n.5412+473G>A
NM_014246.1:c.5412+473G>A	NP_055061.1:n.5412+473G>A
XM_006724383.2:c.5412+473G>A	XP_006724446.1:n.5412+473G>A
XM_011530553.1:c.5412+473G>A	XP_011528855.1:n.5412+473G>A
XM_011530554.1:c.1905+473G>A	XP_011528856.1:n.1905+473G>A
XM_011530555.1:c.1809+473G>A	XP_011528857.1:n.1809+473G>A
XM_006724383.3:c.5412+473G>A	XP_006724446.1:n.5412+473G>A
XM_011530554.2:c.1905+473G>A	XP_011528856.1:n.1905+473G>A
XM_011530555.2:c.1809+473G>A	XP_011528857.1:n.1809+473G>A
NM_014246.2:c.5412+473G>A	NP_055061.1:n.5412+473G>A
NM_014246.3:c.5412+473G>A	NP_055061.1:n.5412+473G>A
NM_001378328.1:c.5412+473G>A MANE Select	NP_001365257.1:n.5412+473G>A
NM_014246.4:c.5412+473G>A	NP_055061.1:n.5412+473G>A