Canonical Allele Identifier: CA360882704

Gene: SNCAIP

Linked Data

• MyVariant Identifiers: chr5:g.121786306G>C (hg19) ; chr5:g.122450611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122450611G>C , CM000667.2:g.122450611G>C	GRCh38
NC_000005.9:g.121786306G>C , CM000667.1:g.121786306G>C	GRCh37
NC_000005.8:g.121814205G>C	NCBI36
NG_011486.1:g.143487G>C
NG_011486.2:g.143487G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261368.13:c.1764G>C MANE Select	ENSP00000261368.8:p.Lys588Asn
ENST00000261367.11:c.1905G>C	ENSP00000261367.7:p.Lys635Asn
ENST00000261368.12:c.1764G>C	ENSP00000261368.8:p.Lys588Asn
ENST00000379538.7:c.666G>C	ENSP00000368854.3:p.Lys222Asn
ENST00000395466.6:c.892G>C	ENSP00000378849.2:n.892G>C
ENST00000395469.6:c.2130G>C	ENSP00000378852.2:n.2130G>C
ENST00000414317.6:c.598G>C	ENSP00000394392.3:n.598G>C
ENST00000504884.6:c.892G>C	ENSP00000426904.2:n.892G>C
ENST00000508017.5:c.*511G>C	ENSP00000424338.1:n.*511G>C
ENST00000509023.5:c.*409G>C	ENSP00000427078.1:n.*409G>C
ENST00000509154.6:c.1584G>C	ENSP00000422106.2:p.Lys528Asn
ENST00000510658.5:c.*566G>C	ENSP00000426526.1:n.*566G>C
ENST00000512146.6:c.853G>C	ENSP00000423360.2:n.853G>C
ENST00000512385.5:c.*511G>C	ENSP00000426280.1:n.*511G>C
ENST00000513719.1:n.749G>C
ENST00000515215.6:c.712G>C	ENSP00000427575.2:n.712G>C
ENST00000542191.5:c.*511G>C	ENSP00000441681.2:n.*511G>C
NM_001242935.1:c.666G>C	NP_001229864.1:p.Lys222Asn
NM_001242935.2:c.666G>C	NP_001229864.1:p.Lys222Asn
NM_001308100.1:c.1905G>C	NP_001295029.1:p.Lys635Asn
NM_001308105.1:c.1584G>C	NP_001295034.1:p.Lys528Asn
NM_001308106.1:c.660G>C	NP_001295035.1:p.Lys220Asn
NM_001308107.1:c.666G>C	NP_001295036.1:p.Lys222Asn
NM_001308108.1:c.846G>C	NP_001295037.1:p.Lys282Asn
NM_001308109.1:c.552G>C	NP_001295038.1:p.Lys184Asn
NM_005460.2:c.1764G>C	NP_005451.2:p.Lys588Asn
NM_005460.3:c.1764G>C	NP_005451.2:p.Lys588Asn
NR_051996.1:n.519C>G
NR_131761.1:n.2176G>C
NR_131762.1:n.905G>C
XM_005272138.3:c.1764G>C	XP_005272195.1:p.Lys588Asn
XM_005272139.1:c.1764G>C	XP_005272196.1:p.Lys588Asn
XM_006714734.2:c.1764G>C	XP_006714797.1:p.Lys588Asn
XM_011543736.1:c.1905G>C	XP_011542038.1:p.Lys635Asn
XM_011543737.1:c.1905G>C	XP_011542039.1:p.Lys635Asn
XM_011543738.1:c.1905G>C	XP_011542040.1:p.Lys635Asn
XM_011543739.1:c.1905G>C	XP_011542041.1:p.Lys635Asn
XM_011543741.1:c.1905G>C	XP_011542043.1:p.Lys635Asn
XM_011543742.1:c.1905G>C	XP_011542044.1:p.Lys635Asn
XM_011543743.1:c.1905G>C	XP_011542045.1:p.Lys635Asn
XM_011543744.1:c.1905G>C	XP_011542046.1:p.Lys635Asn
XM_011543745.1:c.1764G>C	XP_011542047.1:p.Lys588Asn
XM_011543746.1:c.1905G>C	XP_011542048.1:p.Lys635Asn
XM_011543747.1:c.1725G>C	XP_011542049.1:p.Lys575Asn
XM_011543748.1:c.1584G>C	XP_011542050.1:p.Lys528Asn
XM_011543749.1:c.684G>C	XP_011542051.1:p.Lys228Asn
XM_011543750.1:c.660G>C	XP_011542052.1:p.Lys220Asn
XM_005272138.4:c.1764G>C	XP_005272195.1:p.Lys588Asn
XM_011543737.2:c.1905G>C	XP_011542039.1:p.Lys635Asn
XM_011543738.2:c.1905G>C	XP_011542040.1:p.Lys635Asn
XM_011543741.2:c.1905G>C	XP_011542043.1:p.Lys635Asn
XM_011543743.2:c.1905G>C	XP_011542045.1:p.Lys635Asn
XM_011543749.2:c.684G>C	XP_011542051.1:p.Lys228Asn
XM_017010078.1:c.1905G>C	XP_016865567.1:p.Lys635Asn
XM_017010079.1:c.1905G>C	XP_016865568.1:p.Lys635Asn
XM_017010080.1:c.1905G>C	XP_016865569.1:p.Lys635Asn
XM_017010081.1:c.1905G>C	XP_016865570.1:p.Lys635Asn
XM_017010082.1:c.1764G>C	XP_016865571.1:p.Lys588Asn
XM_017010083.1:c.684G>C	XP_016865572.1:p.Lys228Asn
XM_017010085.1:c.660G>C	XP_016865574.1:p.Lys220Asn
XM_024446266.1:c.1764G>C	XP_024302034.1:p.Lys588Asn
XM_024446267.1:c.1764G>C	XP_024302035.1:p.Lys588Asn
XM_024446268.1:c.1764G>C	XP_024302036.1:p.Lys588Asn
XM_024446269.1:c.684G>C	XP_024302037.1:p.Lys228Asn
XR_001742362.1:n.2318G>C
NM_005460.4:c.1764G>C MANE Select	NP_005451.2:p.Lys588Asn
NM_001308100.2:c.1905G>C	NP_001295029.1:p.Lys635Asn
NM_001308107.2:c.666G>C	NP_001295036.1:p.Lys222Asn
NM_001308109.2:c.552G>C	NP_001295038.1:p.Lys184Asn
NM_001242935.3:c.666G>C	NP_001229864.1:p.Lys222Asn