Canonical Allele Identifier: CA431170100
Gene: SMARCAL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.217341864C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216477141C>G , CM000664.2:g.216477141C>G GRCh38
NC_000002.11:g.217341864C>G , CM000664.1:g.217341864C>G GRCh37
NC_000002.10:g.217050109C>G NCBI36
NG_009771.1:g.69728C>G , LRG_108:g.69728C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000425815.6:c.2460C>G ENSP00000394410.2:p.Arg820=
ENST00000430374.6:c.2460C>G ENSP00000405077.2:p.Arg820=
ENST00000444508.6:c.2460C>G ENSP00000398969.2:p.Arg820=
ENST00000697899.1:c.2226C>G ENSP00000513470.1:p.Arg742=
ENST00000697901.1:c.*1215C>G ENSP00000513471.1:n.*1215C>G
ENST00000697903.1:c.*947C>G ENSP00000513472.1:n.*947C>G
ENST00000697904.1:c.*947C>G ENSP00000513473.1:n.*947C>G
ENST00000697905.1:c.*947C>G ENSP00000513474.1:n.*947C>G
ENST00000697906.1:c.2226C>G ENSP00000513475.1:p.Arg742=
ENST00000697907.1:c.*1318C>G ENSP00000513476.1:n.*1318C>G
ENST00000697908.1:n.2154C>G
ENST00000697909.1:n.1352C>G
ENST00000697910.1:n.857C>G
ENST00000697911.1:n.766C>G
ENST00000357276.9:c.2460C>G MANE Select ENSP00000349823.4:p.Arg820=
ENST00000357276.8:c.2460C>G ENSP00000349823.4:p.Arg820=
ENST00000358207.9:c.2460C>G ENSP00000350940.5:p.Arg820=
ENST00000392128.6:c.1986C>G ENSP00000375974.2:p.Arg662=
NM_001127207.1:c.2460C>G NP_001120679.1:p.Arg820=
NM_014140.3:c.2460C>G , LRG_108t1:c.2460C>G NP_054859.2:p.Arg820=
XM_005246631.2:c.2460C>G XP_005246688.1:p.Arg820=
XM_005246632.1:c.2460C>G XP_005246689.1:p.Arg820=
XM_006712557.1:c.2394C>G XP_006712620.1:p.Arg798=
XM_005246632.2:c.2460C>G XP_005246689.1:p.Arg820=
XM_017004228.2:c.1548C>G XP_016859717.1:p.Arg516=
NM_001127207.2:c.2460C>G NP_001120679.1:p.Arg820=
NM_014140.4:c.2460C>G MANE Select NP_054859.2:p.Arg820=