Canonical Allele Identifier: CA3384993

Gene: SNCAIP

Linked Data

• ClinVar Variation Id: 2590935
• ClinVar RCV Id: RCV004341433
• dbSNP Id: rs201736134
• ExAC: 5:121786358 C / T
• gnomAD v2: 5-121786358-C-T
• gnomAD v3: 5-122450663-C-T
• gnomAD v4: 5-122450663-C-T
• COSMIC: COSM1739142 ; COSM1739143
• MyVariant Identifiers: chr5:g.121786358C>T (hg19) ; chr5:g.122450663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122450663C>T , CM000667.2:g.122450663C>T	GRCh38
NC_000005.9:g.121786358C>T , CM000667.1:g.121786358C>T	GRCh37
NC_000005.8:g.121814257C>T	NCBI36
NG_011486.1:g.143539C>T
NG_011486.2:g.143539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261368.13:c.1816C>T MANE Select	ENSP00000261368.8:p.Arg606Trp
ENST00000261367.11:c.1957C>T	ENSP00000261367.7:p.Arg653Trp
ENST00000261368.12:c.1816C>T	ENSP00000261368.8:p.Arg606Trp
ENST00000379538.7:c.718C>T	ENSP00000368854.3:p.Arg240Trp
ENST00000395466.6:c.944C>T	ENSP00000378849.2:n.944C>T
ENST00000395469.6:c.2182C>T	ENSP00000378852.2:n.2182C>T
ENST00000414317.6:c.650C>T	ENSP00000394392.3:n.650C>T
ENST00000504884.6:c.944C>T	ENSP00000426904.2:n.944C>T
ENST00000508017.5:c.*563C>T	ENSP00000424338.1:n.*563C>T
ENST00000509023.5:c.*461C>T	ENSP00000427078.1:n.*461C>T
ENST00000509154.6:c.1636C>T	ENSP00000422106.2:p.Arg546Trp
ENST00000510658.5:c.*618C>T	ENSP00000426526.1:n.*618C>T
ENST00000512146.6:c.905C>T	ENSP00000423360.2:n.905C>T
ENST00000512385.5:c.*563C>T	ENSP00000426280.1:n.*563C>T
ENST00000513719.1:n.801C>T
ENST00000515215.6:c.764C>T	ENSP00000427575.2:n.764C>T
ENST00000542191.5:c.*563C>T	ENSP00000441681.2:n.*563C>T
NM_001242935.1:c.718C>T	NP_001229864.1:p.Arg240Trp
NM_001242935.2:c.718C>T	NP_001229864.1:p.Arg240Trp
NM_001308100.1:c.1957C>T	NP_001295029.1:p.Arg653Trp
NM_001308105.1:c.1636C>T	NP_001295034.1:p.Arg546Trp
NM_001308106.1:c.712C>T	NP_001295035.1:p.Arg238Trp
NM_001308107.1:c.718C>T	NP_001295036.1:p.Arg240Trp
NM_001308108.1:c.898C>T	NP_001295037.1:p.Arg300Trp
NM_001308109.1:c.604C>T	NP_001295038.1:p.Arg202Trp
NM_005460.2:c.1816C>T	NP_005451.2:p.Arg606Trp
NM_005460.3:c.1816C>T	NP_005451.2:p.Arg606Trp
NR_051996.1:n.467G>A
NR_131761.1:n.2228C>T
NR_131762.1:n.957C>T
XM_005272138.3:c.1816C>T	XP_005272195.1:p.Arg606Trp
XM_005272139.1:c.1816C>T	XP_005272196.1:p.Arg606Trp
XM_006714734.2:c.1816C>T	XP_006714797.1:p.Arg606Trp
XM_011543736.1:c.1957C>T	XP_011542038.1:p.Arg653Trp
XM_011543737.1:c.1957C>T	XP_011542039.1:p.Arg653Trp
XM_011543738.1:c.1957C>T	XP_011542040.1:p.Arg653Trp
XM_011543739.1:c.1957C>T	XP_011542041.1:p.Arg653Trp
XM_011543741.1:c.1957C>T	XP_011542043.1:p.Arg653Trp
XM_011543742.1:c.1957C>T	XP_011542044.1:p.Arg653Trp
XM_011543743.1:c.1957C>T	XP_011542045.1:p.Arg653Trp
XM_011543744.1:c.1957C>T	XP_011542046.1:p.Arg653Trp
XM_011543745.1:c.1816C>T	XP_011542047.1:p.Arg606Trp
XM_011543746.1:c.1957C>T	XP_011542048.1:p.Arg653Trp
XM_011543747.1:c.1777C>T	XP_011542049.1:p.Arg593Trp
XM_011543748.1:c.1636C>T	XP_011542050.1:p.Arg546Trp
XM_011543749.1:c.736C>T	XP_011542051.1:p.Arg246Trp
XM_011543750.1:c.712C>T	XP_011542052.1:p.Arg238Trp
XM_005272138.4:c.1816C>T	XP_005272195.1:p.Arg606Trp
XM_011543737.2:c.1957C>T	XP_011542039.1:p.Arg653Trp
XM_011543738.2:c.1957C>T	XP_011542040.1:p.Arg653Trp
XM_011543741.2:c.1957C>T	XP_011542043.1:p.Arg653Trp
XM_011543743.2:c.1957C>T	XP_011542045.1:p.Arg653Trp
XM_011543749.2:c.736C>T	XP_011542051.1:p.Arg246Trp
XM_017010078.1:c.1957C>T	XP_016865567.1:p.Arg653Trp
XM_017010079.1:c.1957C>T	XP_016865568.1:p.Arg653Trp
XM_017010080.1:c.1957C>T	XP_016865569.1:p.Arg653Trp
XM_017010081.1:c.1957C>T	XP_016865570.1:p.Arg653Trp
XM_017010082.1:c.1816C>T	XP_016865571.1:p.Arg606Trp
XM_017010083.1:c.736C>T	XP_016865572.1:p.Arg246Trp
XM_017010085.1:c.712C>T	XP_016865574.1:p.Arg238Trp
XM_024446266.1:c.1816C>T	XP_024302034.1:p.Arg606Trp
XM_024446267.1:c.1816C>T	XP_024302035.1:p.Arg606Trp
XM_024446268.1:c.1816C>T	XP_024302036.1:p.Arg606Trp
XM_024446269.1:c.736C>T	XP_024302037.1:p.Arg246Trp
XR_001742362.1:n.2370C>T
NM_005460.4:c.1816C>T MANE Select	NP_005451.2:p.Arg606Trp
NM_001308100.2:c.1957C>T	NP_001295029.1:p.Arg653Trp
NM_001308107.2:c.718C>T	NP_001295036.1:p.Arg240Trp
NM_001308109.2:c.604C>T	NP_001295038.1:p.Arg202Trp
NM_001242935.3:c.718C>T	NP_001229864.1:p.Arg240Trp