Canonical Allele Identifier: CA325134588

Gene: CELSR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46422493G>A , CM000684.2:g.46422493G>A	GRCh38
NC_000022.10:g.46818390G>A , CM000684.1:g.46818390G>A	GRCh37
NC_000022.9:g.45197054G>A	NCBI36
NG_030466.1:g.119678C>T
NG_030466.2:g.119678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262738.9:c.4612-10734C>T	ENSP00000262738.3:n.4612-10734C>T
ENST00000674500.2:c.4612-10734C>T MANE Select	ENSP00000501367.2:n.4612-10734C>T
ENST00000262738.7:c.4612-10734C>T	ENSP00000262738.3:n.4612-10734C>T
NM_014246.1:c.4612-10734C>T	NP_055061.1:n.4612-10734C>T
XM_006724383.2:c.4612-10734C>T	XP_006724446.1:n.4612-10734C>T
XM_011530553.1:c.4612-10734C>T	XP_011528855.1:n.4612-10734C>T
XM_011530554.1:c.1105-10734C>T	XP_011528856.1:n.1105-10734C>T
XM_011530555.1:c.1009-10734C>T	XP_011528857.1:n.1009-10734C>T
XM_006724383.3:c.4612-10734C>T	XP_006724446.1:n.4612-10734C>T
XM_011530554.2:c.1105-10734C>T	XP_011528856.1:n.1105-10734C>T
XM_011530555.2:c.1009-10734C>T	XP_011528857.1:n.1009-10734C>T
NM_014246.2:c.4612-10734C>T	NP_055061.1:n.4612-10734C>T
NM_014246.3:c.4612-10734C>T	NP_055061.1:n.4612-10734C>T
NM_001378328.1:c.4612-10734C>T MANE Select	NP_001365257.1:n.4612-10734C>T
NM_014246.4:c.4612-10734C>T	NP_055061.1:n.4612-10734C>T