Canonical Allele Identifier: CA402079884

Gene: SS18

Linked Data

• ClinVar Variation Id: 2531249
• ClinVar RCV Id: RCV004299619
• gnomAD v4: 18-26038588-G-A
• MyVariant Identifiers: chr18:g.23618552G>A (hg19) ; chr18:g.26038588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26038588G>A , CM000680.2:g.26038588G>A	GRCh38
NC_000018.9:g.23618552G>A , CM000680.1:g.23618552G>A	GRCh37
NC_000018.8:g.21872550G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415083.7:c.847C>T MANE Select	ENSP00000414516.2:p.Pro283Ser
ENST00000269137.11:c.847C>T	ENSP00000269137.7:p.Pro283Ser
ENST00000269138.9:c.*576C>T	ENSP00000269138.5:n.*576C>T
ENST00000415083.6:c.847C>T	ENSP00000414516.2:p.Pro283Ser
ENST00000539244.6:c.*644C>T	ENSP00000441760.2:n.*644C>T
ENST00000542420.6:c.778C>T	ENSP00000438066.2:p.Pro260Ser
ENST00000579640.5:c.*836C>T	ENSP00000462363.1:n.*836C>T
ENST00000585121.5:c.*711C>T	ENSP00000462838.1:n.*711C>T
NM_001007559.1:c.847C>T	NP_001007560.1:p.Pro283Ser
NM_001007559.2:c.847C>T	NP_001007560.1:p.Pro283Ser
NM_001308201.1:c.778C>T	NP_001295130.1:p.Pro260Ser
NM_005637.2:c.847C>T	NP_005628.2:p.Pro283Ser
NM_005637.3:c.847C>T	NP_005628.2:p.Pro283Ser
XM_006722527.1:c.601C>T	XP_006722590.1:p.Pro201Ser
XM_011526145.1:c.778C>T	XP_011524447.1:p.Pro260Ser
XM_011526146.1:c.778C>T	XP_011524448.1:p.Pro260Ser
XM_011526147.1:c.691C>T	XP_011524449.1:p.Pro231Ser
XM_011526148.1:c.691C>T	XP_011524450.1:p.Pro231Ser
XM_011526149.1:c.691C>T	XP_011524451.1:p.Pro231Ser
XM_011526150.1:c.691C>T	XP_011524452.1:p.Pro231Ser
XM_011526151.1:c.691C>T	XP_011524453.1:p.Pro231Ser
XM_011526152.1:c.691C>T	XP_011524454.1:p.Pro231Ser
XM_006722527.2:c.601C>T	XP_006722590.1:p.Pro201Ser
XM_011526147.2:c.691C>T	XP_011524449.1:p.Pro231Ser
XM_011526148.2:c.691C>T	XP_011524450.1:p.Pro231Ser
XM_011526149.2:c.691C>T	XP_011524451.1:p.Pro231Ser
XM_011526150.2:c.691C>T	XP_011524452.1:p.Pro231Ser
XM_011526151.2:c.691C>T	XP_011524453.1:p.Pro231Ser
XM_011526152.2:c.691C>T	XP_011524454.1:p.Pro231Ser
NM_001007559.3:c.847C>T MANE Select	NP_001007560.1:p.Pro283Ser
NM_001308201.2:c.778C>T	NP_001295130.1:p.Pro260Ser
NM_005637.4:c.847C>T	NP_005628.2:p.Pro283Ser