Canonical Allele Identifier: CA174843
Gene: ASPRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161818
ClinVar RCV Id: RCV000149354 RCV004019793
dbSNP Id: rs184561703
ExAC: 2:70188726 G / A
gnomAD v2: 2-70188726-G-A
gnomAD v3: 2-69961594-G-A
gnomAD v4: 2-69961594-G-A
COSMIC: COSM1179090
MyVariant Identifiers: chr2:g.70188726G>A (hg19) chr2:g.69961594G>A (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.69961594G>A , CM000664.2:g.69961594G>A GRCh38
NC_000002.11:g.70188726G>A , CM000664.1:g.70188726G>A GRCh37
NC_000002.10:g.70042230G>A NCBI36
NG_054918.1:g.5672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320256.6:c.-158C>T MANE Select ENSP00000315383.5:n.-158C>T
ENST00000320256.5:c.95C>T ENSP00000315383.4:p.Pro32Leu
NM_152792.2:c.95C>T NP_690005.2:p.Pro32Leu
NM_152792.4:c.-158C>T MANE Select NP_690005.3:n.-158C>T
NR_170375.1:n.1100+13961C>T
NR_170376.1:n.701-17676C>T
NR_170631.1:n.2386C>T
NR_170632.1:n.2536C>T
NR_170634.1:n.2448C>T
NR_170635.1:n.2701C>T
NR_170636.1:n.3313C>T
NR_170637.1:n.2648C>T
NR_170638.1:n.2791C>T
NR_170639.1:n.2661C>T
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