Canonical Allele Identifier: CA269293447
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 981597
ClinVar RCV Id: RCV001261133 RCV001880008
dbSNP Id: rs904563789
gnomAD v2: 15-38643366-G-A
gnomAD v3: 15-38351165-G-A
gnomAD v4: 15-38351165-G-A
MyVariant Identifiers: chr15:g.38643366G>A (hg19) chr15:g.38351165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351165G>A , CM000677.2:g.38351165G>A GRCh38
NC_000015.9:g.38643366G>A , CM000677.1:g.38643366G>A GRCh37
NC_000015.8:g.36430658G>A NCBI36
NG_008980.1:g.103315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.836G>A MANE Select ENSP00000299084.4:p.Ser279Asn
ENST00000299084.8:c.836G>A ENSP00000299084.4:p.Ser279Asn
NM_152594.2:c.836G>A NP_689807.1:p.Ser279Asn
XM_005254202.2:c.872G>A XP_005254259.1:p.Ser291Asn
XM_005254203.3:c.614G>A XP_005254260.1:p.Ser205Asn
XM_011521288.1:c.773G>A XP_011519590.1:p.Ser258Asn
XM_011521289.1:c.773G>A XP_011519591.1:p.Ser258Asn
XM_011521290.1:c.773G>A XP_011519592.1:p.Ser258Asn
XM_005254202.3:c.872G>A XP_005254259.1:p.Ser291Asn
XM_011521289.3:c.773G>A XP_011519591.1:p.Ser258Asn
NM_152594.3:c.836G>A MANE Select NP_689807.1:p.Ser279Asn
Search 100 bp 5'
Search 100 bp 3'