Canonical Allele Identifier: CA360882729

Gene: SNCAIP

Linked Data

• gnomAD v4: 5-122450622-A-T
• MyVariant Identifiers: chr5:g.121786317A>T (hg19) ; chr5:g.122450622A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122450622A>T , CM000667.2:g.122450622A>T	GRCh38
NC_000005.9:g.121786317A>T , CM000667.1:g.121786317A>T	GRCh37
NC_000005.8:g.121814216A>T	NCBI36
NG_011486.1:g.143498A>T
NG_011486.2:g.143498A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261368.13:c.1775A>T MANE Select	ENSP00000261368.8:p.Gln592Leu
ENST00000261367.11:c.1916A>T	ENSP00000261367.7:p.Gln639Leu
ENST00000261368.12:c.1775A>T	ENSP00000261368.8:p.Gln592Leu
ENST00000379538.7:c.677A>T	ENSP00000368854.3:p.Gln226Leu
ENST00000395466.6:c.903A>T	ENSP00000378849.2:n.903A>T
ENST00000395469.6:c.2141A>T	ENSP00000378852.2:n.2141A>T
ENST00000414317.6:c.609A>T	ENSP00000394392.3:n.609A>T
ENST00000504884.6:c.903A>T	ENSP00000426904.2:n.903A>T
ENST00000508017.5:c.*522A>T	ENSP00000424338.1:n.*522A>T
ENST00000509023.5:c.*420A>T	ENSP00000427078.1:n.*420A>T
ENST00000509154.6:c.1595A>T	ENSP00000422106.2:p.Gln532Leu
ENST00000510658.5:c.*577A>T	ENSP00000426526.1:n.*577A>T
ENST00000512146.6:c.864A>T	ENSP00000423360.2:n.864A>T
ENST00000512385.5:c.*522A>T	ENSP00000426280.1:n.*522A>T
ENST00000513719.1:n.760A>T
ENST00000515215.6:c.723A>T	ENSP00000427575.2:n.723A>T
ENST00000542191.5:c.*522A>T	ENSP00000441681.2:n.*522A>T
NM_001242935.1:c.677A>T	NP_001229864.1:p.Gln226Leu
NM_001242935.2:c.677A>T	NP_001229864.1:p.Gln226Leu
NM_001308100.1:c.1916A>T	NP_001295029.1:p.Gln639Leu
NM_001308105.1:c.1595A>T	NP_001295034.1:p.Gln532Leu
NM_001308106.1:c.671A>T	NP_001295035.1:p.Gln224Leu
NM_001308107.1:c.677A>T	NP_001295036.1:p.Gln226Leu
NM_001308108.1:c.857A>T	NP_001295037.1:p.Gln286Leu
NM_001308109.1:c.563A>T	NP_001295038.1:p.Gln188Leu
NM_005460.2:c.1775A>T	NP_005451.2:p.Gln592Leu
NM_005460.3:c.1775A>T	NP_005451.2:p.Gln592Leu
NR_051996.1:n.508T>A
NR_131761.1:n.2187A>T
NR_131762.1:n.916A>T
XM_005272138.3:c.1775A>T	XP_005272195.1:p.Gln592Leu
XM_005272139.1:c.1775A>T	XP_005272196.1:p.Gln592Leu
XM_006714734.2:c.1775A>T	XP_006714797.1:p.Gln592Leu
XM_011543736.1:c.1916A>T	XP_011542038.1:p.Gln639Leu
XM_011543737.1:c.1916A>T	XP_011542039.1:p.Gln639Leu
XM_011543738.1:c.1916A>T	XP_011542040.1:p.Gln639Leu
XM_011543739.1:c.1916A>T	XP_011542041.1:p.Gln639Leu
XM_011543741.1:c.1916A>T	XP_011542043.1:p.Gln639Leu
XM_011543742.1:c.1916A>T	XP_011542044.1:p.Gln639Leu
XM_011543743.1:c.1916A>T	XP_011542045.1:p.Gln639Leu
XM_011543744.1:c.1916A>T	XP_011542046.1:p.Gln639Leu
XM_011543745.1:c.1775A>T	XP_011542047.1:p.Gln592Leu
XM_011543746.1:c.1916A>T	XP_011542048.1:p.Gln639Leu
XM_011543747.1:c.1736A>T	XP_011542049.1:p.Gln579Leu
XM_011543748.1:c.1595A>T	XP_011542050.1:p.Gln532Leu
XM_011543749.1:c.695A>T	XP_011542051.1:p.Gln232Leu
XM_011543750.1:c.671A>T	XP_011542052.1:p.Gln224Leu
XM_005272138.4:c.1775A>T	XP_005272195.1:p.Gln592Leu
XM_011543737.2:c.1916A>T	XP_011542039.1:p.Gln639Leu
XM_011543738.2:c.1916A>T	XP_011542040.1:p.Gln639Leu
XM_011543741.2:c.1916A>T	XP_011542043.1:p.Gln639Leu
XM_011543743.2:c.1916A>T	XP_011542045.1:p.Gln639Leu
XM_011543749.2:c.695A>T	XP_011542051.1:p.Gln232Leu
XM_017010078.1:c.1916A>T	XP_016865567.1:p.Gln639Leu
XM_017010079.1:c.1916A>T	XP_016865568.1:p.Gln639Leu
XM_017010080.1:c.1916A>T	XP_016865569.1:p.Gln639Leu
XM_017010081.1:c.1916A>T	XP_016865570.1:p.Gln639Leu
XM_017010082.1:c.1775A>T	XP_016865571.1:p.Gln592Leu
XM_017010083.1:c.695A>T	XP_016865572.1:p.Gln232Leu
XM_017010085.1:c.671A>T	XP_016865574.1:p.Gln224Leu
XM_024446266.1:c.1775A>T	XP_024302034.1:p.Gln592Leu
XM_024446267.1:c.1775A>T	XP_024302035.1:p.Gln592Leu
XM_024446268.1:c.1775A>T	XP_024302036.1:p.Gln592Leu
XM_024446269.1:c.695A>T	XP_024302037.1:p.Gln232Leu
XR_001742362.1:n.2329A>T
NM_005460.4:c.1775A>T MANE Select	NP_005451.2:p.Gln592Leu
NM_001308100.2:c.1916A>T	NP_001295029.1:p.Gln639Leu
NM_001308107.2:c.677A>T	NP_001295036.1:p.Gln226Leu
NM_001308109.2:c.563A>T	NP_001295038.1:p.Gln188Leu
NM_001242935.3:c.677A>T	NP_001229864.1:p.Gln226Leu