Canonical Allele Identifier: CA243406

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 196457
• ClinVar RCV Id: RCV000177275 ; RCV001396263
• dbSNP Id: rs751534116
• ExAC: 2:217280102 G / A
• gnomAD v2: 2-217280102-G-A
• gnomAD v3: 2-216415379-G-A
• gnomAD v4: 2-216415379-G-A
• MyVariant Identifiers: chr2:g.217280102G>A (hg19) ; chr2:g.216415379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415379G>A , CM000664.2:g.216415379G>A	GRCh38
NC_000002.11:g.217280102G>A , CM000664.1:g.217280102G>A	GRCh37
NC_000002.10:g.216988347G>A	NCBI36
NG_009771.1:g.7966G>A , LRG_108:g.7966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.675G>A	ENSP00000394410.2:p.Lys225=
ENST00000430374.6:c.675G>A	ENSP00000405077.2:p.Lys225=
ENST00000444508.6:c.675G>A	ENSP00000398969.2:p.Lys225=
ENST00000697898.1:n.1036G>A
ENST00000697899.1:c.675G>A	ENSP00000513470.1:p.Lys225=
ENST00000697900.1:n.951G>A
ENST00000697901.1:c.675G>A	ENSP00000513471.1:p.Lys225=
ENST00000697902.1:n.907G>A
ENST00000697903.1:c.675G>A	ENSP00000513472.1:p.Lys225=
ENST00000697904.1:c.675G>A	ENSP00000513473.1:p.Lys225=
ENST00000697905.1:c.675G>A	ENSP00000513474.1:p.Lys225=
ENST00000697906.1:c.675G>A	ENSP00000513475.1:p.Lys225=
ENST00000697907.1:c.675G>A	ENSP00000513476.1:p.Lys225=
ENST00000357276.9:c.675G>A MANE Select	ENSP00000349823.4:p.Lys225=
ENST00000357276.8:c.675G>A	ENSP00000349823.4:p.Lys225=
ENST00000358207.9:c.675G>A	ENSP00000350940.5:p.Lys225=
ENST00000392128.6:c.267G>A	ENSP00000375974.2:p.Lys89=
ENST00000427645.5:c.372G>A	ENSP00000392997.1:p.Lys124=
NM_001127207.1:c.675G>A	NP_001120679.1:p.Lys225=
NM_014140.3:c.675G>A , LRG_108t1:c.675G>A	NP_054859.2:p.Lys225=
XM_005246631.2:c.675G>A	XP_005246688.1:p.Lys225=
XM_005246632.1:c.675G>A	XP_005246689.1:p.Lys225=
XM_006712557.1:c.675G>A	XP_006712620.1:p.Lys225=
XM_005246632.2:c.675G>A	XP_005246689.1:p.Lys225=
XM_017004228.2:c.-242G>A	XP_016859717.1:n.-242G>A
NM_001127207.2:c.675G>A	NP_001120679.1:p.Lys225=
NM_014140.4:c.675G>A MANE Select	NP_054859.2:p.Lys225=