Canonical Allele Identifier: CA2930980
Gene: SRP72 HGNC NCBI

Linked Data

ClinVar Variation Id: 349118
ClinVar RCV Id: RCV000266588 RCV001355587 RCV001821063 RCV003409552
dbSNP Id: rs201940585
ExAC: 4:57335842 G / A
gnomAD v2: 4-57335842-G-A
gnomAD v3: 4-56469676-G-A
gnomAD v4: 4-56469676-G-A
COSMIC: COSM4125296
MyVariant Identifiers: chr4:g.57335842G>A (hg19) chr4:g.56469676G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56469676G>A , CM000666.2:g.56469676G>A GRCh38
NC_000004.11:g.57335842G>A , CM000666.1:g.57335842G>A GRCh37
NC_000004.10:g.57030599G>A NCBI36
NG_032796.1:g.7081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000505314.2:c.33G>A
ENST00000510663.6:c.133G>A ENSP00000424576.1:p.Val45Ile
ENST00000642900.1:c.133G>A MANE Select ENSP00000495128.1:p.Val45Ile
ENST00000342756.9:c.133G>A ENSP00000342181.5:p.Val45Ile
ENST00000504757.2:c.133G>A ENSP00000473576.1:p.Val45Ile
ENST00000510663.5:c.133G>A ENSP00000424576.1:p.Val45Ile
NM_001267722.1:c.133G>A NP_001254651.1:p.Val45Ile
NM_006947.3:c.133G>A NP_008878.3:p.Val45Ile
XM_005265765.3:c.133G>A XP_005265822.2:p.Val45Ile
NM_006947.4:c.133G>A MANE Select NP_008878.3:p.Val45Ile
NR_151856.1:n.173G>A
XM_024454192.1:c.133G>A XP_024309960.1:p.Val45Ile
NM_001267722.2:c.133G>A NP_001254651.1:p.Val45Ile
NR_151856.2:n.152G>A
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