Canonical Allele Identifier: CA65591932

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs377063360
• gnomAD v4: 2-216428544-A-G
• MyVariant Identifiers: chr2:g.217293267A>G (hg19) ; chr2:g.216428544A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428544A>G , CM000664.2:g.216428544A>G	GRCh38
NC_000002.11:g.217293267A>G , CM000664.1:g.217293267A>G	GRCh37
NC_000002.10:g.217001512A>G	NCBI36
NG_009771.1:g.21131A>G , LRG_108:g.21131A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1148-52A>G	ENSP00000394410.2:n.1148-52A>G
ENST00000430374.6:c.1148-52A>G	ENSP00000405077.2:n.1148-52A>G
ENST00000444508.6:c.1148-52A>G	ENSP00000398969.2:n.1148-52A>G
ENST00000697898.1:n.1509-52A>G
ENST00000697899.1:c.914-52A>G	ENSP00000513470.1:n.914-52A>G
ENST00000697900.1:n.1424-52A>G
ENST00000697901.1:c.*6-52A>G	ENSP00000513471.1:n.*6-52A>G
ENST00000697902.1:n.1380-52A>G
ENST00000697903.1:c.1148-52A>G	ENSP00000513472.1:n.1148-52A>G
ENST00000697904.1:c.1148-52A>G	ENSP00000513473.1:n.1148-52A>G
ENST00000697905.1:c.1148-52A>G	ENSP00000513474.1:n.1148-52A>G
ENST00000697906.1:c.914-52A>G	ENSP00000513475.1:n.914-52A>G
ENST00000697907.1:c.*6-52A>G	ENSP00000513476.1:n.*6-52A>G
ENST00000697908.1:n.893A>G
ENST00000357276.9:c.1148-52A>G MANE Select	ENSP00000349823.4:n.1148-52A>G
ENST00000357276.8:c.1148-52A>G	ENSP00000349823.4:n.1148-52A>G
ENST00000358207.9:c.1148-52A>G	ENSP00000350940.5:n.1148-52A>G
ENST00000392128.6:c.740-52A>G	ENSP00000375974.2:n.740-52A>G
ENST00000412913.1:c.308-52A>G	ENSP00000390248.1:n.308-52A>G
ENST00000427645.5:c.794-52A>G	ENSP00000392997.1:n.794-52A>G
ENST00000479008.1:n.392-52A>G
NM_001127207.1:c.1148-52A>G	NP_001120679.1:n.1148-52A>G
NM_014140.3:c.1148-52A>G , LRG_108t1:c.1148-52A>G	NP_054859.2:n.1148-52A>G
XM_005246631.2:c.1148-52A>G	XP_005246688.1:n.1148-52A>G
XM_005246632.1:c.1148-52A>G	XP_005246689.1:n.1148-52A>G
XM_006712557.1:c.1148-52A>G	XP_006712620.1:n.1148-52A>G
XM_005246632.2:c.1148-52A>G	XP_005246689.1:n.1148-52A>G
XM_017004228.2:c.236-52A>G	XP_016859717.1:n.236-52A>G
NM_001127207.2:c.1148-52A>G	NP_001120679.1:n.1148-52A>G
NM_014140.4:c.1148-52A>G MANE Select	NP_054859.2:n.1148-52A>G