Canonical Allele Identifier: CA360883257

Gene: SNCAIP

Linked Data

• dbSNP Id: rs1783561102
• gnomAD v4: 5-122450847-T-C
• MyVariant Identifiers: chr5:g.121786542T>C (hg19) ; chr5:g.122450847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122450847T>C , CM000667.2:g.122450847T>C	GRCh38
NC_000005.9:g.121786542T>C , CM000667.1:g.121786542T>C	GRCh37
NC_000005.8:g.121814441T>C	NCBI36
NG_011486.1:g.143723T>C
NG_011486.2:g.143723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261368.13:c.2000T>C MANE Select	ENSP00000261368.8:p.Leu667Pro
ENST00000261367.11:c.2141T>C	ENSP00000261367.7:p.Leu714Pro
ENST00000261368.12:c.2000T>C	ENSP00000261368.8:p.Leu667Pro
ENST00000379538.7:c.902T>C	ENSP00000368854.3:p.Leu301Pro
ENST00000395466.6:c.1128T>C	ENSP00000378849.2:n.1128T>C
ENST00000395469.6:c.2366T>C	ENSP00000378852.2:n.2366T>C
ENST00000414317.6:c.834T>C	ENSP00000394392.3:n.834T>C
ENST00000504884.6:c.1128T>C	ENSP00000426904.2:n.1128T>C
ENST00000508017.5:c.*747T>C	ENSP00000424338.1:n.*747T>C
ENST00000509023.5:c.*645T>C	ENSP00000427078.1:n.*645T>C
ENST00000509154.6:c.1820T>C	ENSP00000422106.2:p.Leu607Pro
ENST00000510658.5:c.*802T>C	ENSP00000426526.1:n.*802T>C
ENST00000512146.6:c.1089T>C	ENSP00000423360.2:n.1089T>C
ENST00000512385.5:c.*747T>C	ENSP00000426280.1:n.*747T>C
ENST00000513719.1:n.985T>C
ENST00000515215.6:c.948T>C	ENSP00000427575.2:n.948T>C
ENST00000542191.5:c.*747T>C	ENSP00000441681.2:n.*747T>C
NM_001242935.1:c.902T>C	NP_001229864.1:p.Leu301Pro
NM_001242935.2:c.902T>C	NP_001229864.1:p.Leu301Pro
NM_001308100.1:c.2141T>C	NP_001295029.1:p.Leu714Pro
NM_001308105.1:c.1820T>C	NP_001295034.1:p.Leu607Pro
NM_001308106.1:c.896T>C	NP_001295035.1:p.Leu299Pro
NM_001308107.1:c.902T>C	NP_001295036.1:p.Leu301Pro
NM_001308108.1:c.1082T>C	NP_001295037.1:p.Leu361Pro
NM_001308109.1:c.788T>C	NP_001295038.1:p.Leu263Pro
NM_005460.2:c.2000T>C	NP_005451.2:p.Leu667Pro
NM_005460.3:c.2000T>C	NP_005451.2:p.Leu667Pro
NR_051996.1:n.464-181A>G
NR_131761.1:n.2412T>C
NR_131762.1:n.1141T>C
XM_005272138.3:c.2000T>C	XP_005272195.1:p.Leu667Pro
XM_005272139.1:c.2000T>C	XP_005272196.1:p.Leu667Pro
XM_006714734.2:c.2000T>C	XP_006714797.1:p.Leu667Pro
XM_011543736.1:c.2141T>C	XP_011542038.1:p.Leu714Pro
XM_011543737.1:c.2141T>C	XP_011542039.1:p.Leu714Pro
XM_011543738.1:c.2141T>C	XP_011542040.1:p.Leu714Pro
XM_011543739.1:c.2141T>C	XP_011542041.1:p.Leu714Pro
XM_011543741.1:c.2141T>C	XP_011542043.1:p.Leu714Pro
XM_011543742.1:c.2141T>C	XP_011542044.1:p.Leu714Pro
XM_011543743.1:c.2141T>C	XP_011542045.1:p.Leu714Pro
XM_011543744.1:c.2141T>C	XP_011542046.1:p.Leu714Pro
XM_011543745.1:c.2000T>C	XP_011542047.1:p.Leu667Pro
XM_011543746.1:c.2141T>C	XP_011542048.1:p.Leu714Pro
XM_011543747.1:c.1961T>C	XP_011542049.1:p.Leu654Pro
XM_011543748.1:c.1820T>C	XP_011542050.1:p.Leu607Pro
XM_011543749.1:c.920T>C	XP_011542051.1:p.Leu307Pro
XM_011543750.1:c.896T>C	XP_011542052.1:p.Leu299Pro
XM_005272138.4:c.2000T>C	XP_005272195.1:p.Leu667Pro
XM_011543737.2:c.2141T>C	XP_011542039.1:p.Leu714Pro
XM_011543738.2:c.2141T>C	XP_011542040.1:p.Leu714Pro
XM_011543741.2:c.2141T>C	XP_011542043.1:p.Leu714Pro
XM_011543743.2:c.2141T>C	XP_011542045.1:p.Leu714Pro
XM_011543749.2:c.920T>C	XP_011542051.1:p.Leu307Pro
XM_017010078.1:c.2141T>C	XP_016865567.1:p.Leu714Pro
XM_017010079.1:c.2141T>C	XP_016865568.1:p.Leu714Pro
XM_017010080.1:c.2141T>C	XP_016865569.1:p.Leu714Pro
XM_017010081.1:c.2141T>C	XP_016865570.1:p.Leu714Pro
XM_017010082.1:c.2000T>C	XP_016865571.1:p.Leu667Pro
XM_017010083.1:c.920T>C	XP_016865572.1:p.Leu307Pro
XM_017010085.1:c.896T>C	XP_016865574.1:p.Leu299Pro
XM_024446266.1:c.2000T>C	XP_024302034.1:p.Leu667Pro
XM_024446267.1:c.2000T>C	XP_024302035.1:p.Leu667Pro
XM_024446268.1:c.2000T>C	XP_024302036.1:p.Leu667Pro
XM_024446269.1:c.920T>C	XP_024302037.1:p.Leu307Pro
XR_001742362.1:n.2554T>C
NM_005460.4:c.2000T>C MANE Select	NP_005451.2:p.Leu667Pro
NM_001308100.2:c.2141T>C	NP_001295029.1:p.Leu714Pro
NM_001308107.2:c.902T>C	NP_001295036.1:p.Leu301Pro
NM_001308109.2:c.788T>C	NP_001295038.1:p.Leu263Pro
NM_001242935.3:c.902T>C	NP_001229864.1:p.Leu301Pro