Canonical Allele Identifier: CA2408740183
Gene: CELSR1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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