Canonical Allele Identifier: CA373852396

Gene: VPS13A

Linked Data

• dbSNP Id: rs2131394328
• gnomAD v3: 9-77302917-C-T
• gnomAD v4: 9-77302917-C-T
• MyVariant Identifiers: chr9:g.79917833C>T (hg19) ; chr9:g.77302917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77302917C>T , CM000671.2:g.77302917C>T	GRCh38
NC_000009.11:g.79917833C>T , CM000671.1:g.79917833C>T	GRCh37
NC_000009.10:g.79107653C>T	NCBI36
NG_008931.1:g.130473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.3815C>T MANE Select	ENSP00000353422.3:p.Ser1272Phe
ENST00000643348.1:c.3815C>T	ENSP00000493592.1:p.Ser1272Phe
ENST00000645632.1:c.3815C>T	ENSP00000496361.1:p.Ser1272Phe
ENST00000357409.9:c.3815C>T	ENSP00000349985.5:p.Ser1272Phe
ENST00000360280.7:c.3815C>T	ENSP00000353422.3:p.Ser1272Phe
ENST00000376634.8:c.3815C>T	ENSP00000365821.4:p.Ser1272Phe
ENST00000376636.7:c.3698C>T	ENSP00000365823.3:p.Ser1233Phe
ENST00000423463.6:n.1105C>T
ENST00000493341.1:c.323C>T	ENSP00000437478.1:p.Ser108Phe
NM_001018037.1:c.3698C>T	NP_001018047.1:p.Ser1233Phe
NM_001018038.2:c.3815C>T	NP_001018048.1:p.Ser1272Phe
NM_015186.3:c.3815C>T	NP_056001.1:p.Ser1272Phe
NM_033305.2:c.3815C>T	NP_150648.2:p.Ser1272Phe
XR_242579.2:n.4167C>T
XR_242580.3:n.4167C>T
XR_929740.1:n.4167C>T
XR_001746259.1:n.4167C>T
XR_001746260.1:n.4167C>T
NM_033305.3:c.3815C>T MANE Select	NP_150648.2:p.Ser1272Phe
NM_001018037.2:c.3698C>T	NP_001018047.1:p.Ser1233Phe
NM_001018038.3:c.3815C>T	NP_001018048.1:p.Ser1272Phe
NM_015186.4:c.3815C>T	NP_056001.1:p.Ser1272Phe