Canonical Allele Identifier: CA2097795

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs750718632
• ExAC: 2:217293280 T / C
• gnomAD v2: 2-217293280-T-C
• gnomAD v3: 2-216428557-T-C
• gnomAD v4: 2-216428557-T-C
• MyVariant Identifiers: chr2:g.217293280T>C (hg19) ; chr2:g.216428557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428557T>C , CM000664.2:g.216428557T>C	GRCh38
NC_000002.11:g.217293280T>C , CM000664.1:g.217293280T>C	GRCh37
NC_000002.10:g.217001525T>C	NCBI36
NG_009771.1:g.21144T>C , LRG_108:g.21144T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1148-39T>C	ENSP00000394410.2:n.1148-39T>C
ENST00000430374.6:c.1148-39T>C	ENSP00000405077.2:n.1148-39T>C
ENST00000444508.6:c.1148-39T>C	ENSP00000398969.2:n.1148-39T>C
ENST00000697898.1:n.1509-39T>C
ENST00000697899.1:c.914-39T>C	ENSP00000513470.1:n.914-39T>C
ENST00000697900.1:n.1424-39T>C
ENST00000697901.1:c.*6-39T>C	ENSP00000513471.1:n.*6-39T>C
ENST00000697902.1:n.1380-39T>C
ENST00000697903.1:c.1148-39T>C	ENSP00000513472.1:n.1148-39T>C
ENST00000697904.1:c.1148-39T>C	ENSP00000513473.1:n.1148-39T>C
ENST00000697905.1:c.1148-39T>C	ENSP00000513474.1:n.1148-39T>C
ENST00000697906.1:c.914-39T>C	ENSP00000513475.1:n.914-39T>C
ENST00000697907.1:c.*6-39T>C	ENSP00000513476.1:n.*6-39T>C
ENST00000697908.1:n.906T>C
ENST00000357276.9:c.1148-39T>C MANE Select	ENSP00000349823.4:n.1148-39T>C
ENST00000357276.8:c.1148-39T>C	ENSP00000349823.4:n.1148-39T>C
ENST00000358207.9:c.1148-39T>C	ENSP00000350940.5:n.1148-39T>C
ENST00000392128.6:c.740-39T>C	ENSP00000375974.2:n.740-39T>C
ENST00000412913.1:c.308-39T>C	ENSP00000390248.1:n.308-39T>C
ENST00000427645.5:c.794-39T>C	ENSP00000392997.1:n.794-39T>C
ENST00000479008.1:n.392-39T>C
NM_001127207.1:c.1148-39T>C	NP_001120679.1:n.1148-39T>C
NM_014140.3:c.1148-39T>C , LRG_108t1:c.1148-39T>C	NP_054859.2:n.1148-39T>C
XM_005246631.2:c.1148-39T>C	XP_005246688.1:n.1148-39T>C
XM_005246632.1:c.1148-39T>C	XP_005246689.1:n.1148-39T>C
XM_006712557.1:c.1148-39T>C	XP_006712620.1:n.1148-39T>C
XM_005246632.2:c.1148-39T>C	XP_005246689.1:n.1148-39T>C
XM_017004228.2:c.236-39T>C	XP_016859717.1:n.236-39T>C
NM_001127207.2:c.1148-39T>C	NP_001120679.1:n.1148-39T>C
NM_014140.4:c.1148-39T>C MANE Select	NP_054859.2:n.1148-39T>C