Canonical Allele Identifier: CA373989369
Community Standard Title: NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
Gene: VPS13A HGNC NCBI
VPS13A-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77177705A>T , CM000671.2:g.77177705A>T GRCh38
NC_000009.11:g.79792621A>T , CM000671.1:g.79792621A>T GRCh37
NC_000009.10:g.78982441A>T NCBI36
NG_008931.1:g.5261A>T

Transcript Alleles

HGVS Amino-acid Change
NM_033305.3:c.1A>T (VPS13A) MANE Select NP_150648.2:p.Met1Leu
ENST00000360280.8:c.1A>T (VPS13A) MANE Select ENSP00000353422.3:p.Met1Leu
NM_001018037.1:c.1A>T (VPS13A) NP_001018047.1:p.Met1Leu
NM_001018037.2:c.1A>T (VPS13A) NP_001018047.1:p.Met1Leu
NM_001018038.2:c.1A>T (VPS13A) NP_001018048.1:p.Met1Leu
NM_001018038.3:c.1A>T (VPS13A) NP_001018048.1:p.Met1Leu
NM_015186.3:c.1A>T (VPS13A) NP_056001.1:p.Met1Leu
NM_015186.4:c.1A>T (VPS13A) NP_056001.1:p.Met1Leu
NM_033305.2:c.1A>T (VPS13A) NP_150648.2:p.Met1Leu
NR_026668.2:n.213T>A (VPS13A-AS1)
ENST00000357409.9:c.1A>T (VPS13A) ENSP00000349985.5:p.Met1Leu
ENST00000360280.7:c.1A>T (VPS13A) ENSP00000353422.3:p.Met1Leu
ENST00000376634.8:c.1A>T (VPS13A) ENSP00000365821.4:p.Met1Leu
ENST00000376636.7:c.1A>T (VPS13A) ENSP00000365823.3:p.Met1Leu
ENST00000643348.1:c.1A>T (VPS13A) ENSP00000493592.1:p.Met1Leu
ENST00000645632.1:c.1A>T (VPS13A) ENSP00000496361.1:p.Met1Leu
XR_001746259.1:n.353A>T (VPS13A)
XR_001746260.1:n.353A>T (VPS13A)
XR_242579.2:n.353A>T (VPS13A)
XR_242580.3:n.353A>T (VPS13A)
XR_929740.1:n.353A>T (VPS13A)