Canonical Allele Identifier: CA325144825

Gene: CELSR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46436281G>C , CM000684.2:g.46436281G>C	GRCh38
NC_000022.10:g.46832178G>C , CM000684.1:g.46832178G>C	GRCh37
NC_000022.9:g.45210842G>C	NCBI36
NG_030466.1:g.105890C>G
NG_030466.2:g.105890C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378328.1:c.4415C>G MANE Select	NP_001365257.1:p.Thr1472Ser
ENST00000674500.2:c.4415C>G MANE Select	ENSP00000501367.2:p.Thr1472Ser
NM_014246.1:c.4415C>G	NP_055061.1:p.Thr1472Ser
NM_014246.2:c.4415C>G	NP_055061.1:p.Thr1472Ser
NM_014246.3:c.4415C>G	NP_055061.1:p.Thr1472Ser
NM_014246.4:c.4415C>G	NP_055061.1:p.Thr1472Ser
ENST00000262738.7:c.4415C>G	ENSP00000262738.3:p.Thr1472Ser
ENST00000262738.9:c.4415C>G	ENSP00000262738.3:p.Thr1472Ser
XM_006724383.2:c.4415C>G	XP_006724446.1:p.Thr1472Ser
XM_006724383.3:c.4415C>G	XP_006724446.1:p.Thr1472Ser
XM_011530553.1:c.4415C>G	XP_011528855.1:p.Thr1472Ser
XM_011530554.1:c.908C>G	XP_011528856.1:p.Thr303Ser
XM_011530554.2:c.908C>G	XP_011528856.1:p.Thr303Ser
XM_011530555.1:c.812C>G	XP_011528857.1:p.Thr271Ser
XM_011530555.2:c.812C>G	XP_011528857.1:p.Thr271Ser