Canonical Allele Identifier: CA2849944

Gene: SH3TC1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.8233376G>C , CM000666.2:g.8233376G>C	GRCh38
NC_000004.11:g.8235103G>C , CM000666.1:g.8235103G>C	GRCh37
NC_000004.10:g.8286003G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018986.5:c.3145G>C MANE Select	NP_061859.4:p.Ala1049Pro
ENST00000245105.8:c.3145G>C MANE Select	ENSP00000245105.3:p.Ala1049Pro
NM_001318480.1:c.2917G>C	NP_001305409.1:p.Ala973Pro
NM_001318480.2:c.2917G>C	NP_001305409.2:p.Ala973Pro
NM_018986.3:c.3145G>C	NP_061859.3:p.Ala1049Pro
NM_018986.4:c.3145G>C	NP_061859.3:p.Ala1049Pro
NR_134639.1:n.3049G>C
NR_134639.2:n.3003G>C
ENST00000245105.7:c.3145G>C	ENSP00000245105.3:p.Ala1049Pro
ENST00000457650.7:c.3145G>C	ENSP00000390311.3:p.Ala1049Pro
ENST00000502350.5:n.1256G>C
ENST00000502559.1:n.1029G>C
ENST00000502669.5:c.*2250G>C	ENSP00000425970.1:n.*2250G>C
ENST00000506360.5:n.4129G>C
ENST00000508183.5:n.276G>C
ENST00000508641.2:c.2917G>C	ENSP00000426035.2:p.Ala973Pro
ENST00000511002.5:c.667G>C
ENST00000511002.6:c.148G>C	ENSP00000423583.2:p.Ala50Pro
ENST00000513495.5:n.305G>C
ENST00000515682.5:c.*2997G>C	ENSP00000425079.1:n.*2997G>C
ENST00000682056.1:c.3504G>C	ENSP00000507811.1:n.3504G>C
ENST00000682862.1:c.3803G>C	ENSP00000507502.1:n.3803G>C
ENST00000684537.1:c.3158G>C	ENSP00000507344.1:n.3158G>C
ENST00000684698.1:c.3064G>C	ENSP00000506945.1:p.Ala1022Pro
XM_005247974.2:c.2917G>C	XP_005248031.1:p.Ala973Pro
XM_006713889.1:c.2632G>C	XP_006713952.1:p.Ala878Pro
XM_006713889.2:c.2632G>C	XP_006713952.1:p.Ala878Pro
XM_006713891.2:c.2266G>C	XP_006713954.1:p.Ala756Pro
XM_006713891.3:c.2266G>C	XP_006713954.1:p.Ala756Pro
XM_011513488.1:c.3145G>C	XP_011511790.1:p.Ala1049Pro
XM_011513489.1:c.2266G>C	XP_011511791.1:p.Ala756Pro
XM_011513489.2:c.2266G>C	XP_011511791.1:p.Ala756Pro
XM_017008300.2:c.3145G>C	XP_016863789.1:p.Ala1049Pro
XM_017008302.1:c.1939G>C	XP_016863791.1:p.Ala647Pro
XM_024454094.1:c.2836G>C	XP_024309862.1:p.Ala946Pro
XR_002959735.1:n.2973G>C