Canonical Allele Identifier: CA2408720211
Gene: CELSR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46384624T= , CM000684.2:g.46384624T= GRCh38
NC_000022.10:g.46780521T= , CM000684.1:g.46780521T= GRCh37
NC_000022.9:g.45159185T= NCBI36
NG_030466.1:g.157547A=
NG_030466.2:g.157547A=

Transcript Alleles

HGVS Amino-acid Change
NM_001378328.1:c.6802A= MANE Select NP_001365257.1:p.Thr2268=
ENST00000674500.2:c.6802A= MANE Select ENSP00000501367.2:p.Thr2268=
NM_014246.1:c.6802A= NP_055061.1:p.Thr2268=
NM_014246.2:c.6802A= NP_055061.1:p.Thr2268=
NM_014246.3:c.6802A= NP_055061.1:p.Thr2268=
NM_014246.4:c.6802A= NP_055061.1:p.Thr2268=
ENST00000262738.7:c.6802A= ENSP00000262738.3:p.Thr2268=
ENST00000262738.9:c.6802A= ENSP00000262738.3:p.Thr2268=
ENST00000674341.1:n.1879A=
ENST00000674379.1:n.159A=
XM_006724383.2:c.6802A= XP_006724446.1:p.Thr2268=
XM_006724383.3:c.6802A= XP_006724446.1:p.Thr2268=
XM_011530554.1:c.3295A= XP_011528856.1:p.Thr1099=
XM_011530554.2:c.3295A= XP_011528856.1:p.Thr1099=
XM_011530555.1:c.3199A= XP_011528857.1:p.Thr1067=
XM_011530555.2:c.3199A= XP_011528857.1:p.Thr1067=