Canonical Allele Identifier: CA1023145
Community Standard Title: NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu)
Gene: VANGL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115659667C>T , CM000663.2:g.115659667C>T GRCh38
NC_000001.10:g.116202288C>T , CM000663.1:g.116202288C>T GRCh37
NC_000001.9:g.116003811C>T NCBI36
NG_016548.1:g.22715C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138959.3:c.98C>T MANE Select NP_620409.1:p.Ser33Leu
ENST00000355485.7:c.98C>T MANE Select ENSP00000347672.2:p.Ser33Leu
NM_001172411.1:c.98C>T NP_001165882.1:p.Ser33Leu
NM_001172411.2:c.98C>T NP_001165882.1:p.Ser33Leu
NM_001172412.1:c.98C>T NP_001165883.1:p.Ser33Leu
NM_001172412.2:c.98C>T NP_001165883.1:p.Ser33Leu
NM_138959.2:c.98C>T NP_620409.1:p.Ser33Leu
ENST00000310260.7:c.98C>T ENSP00000310800.3:p.Ser33Leu
ENST00000355485.6:c.98C>T ENSP00000347672.2:p.Ser33Leu
ENST00000369509.1:c.98C>T ENSP00000358522.1:p.Ser33Leu
ENST00000369510.8:c.98C>T ENSP00000358523.3:p.Ser33Leu