Canonical Allele Identifier: CA65620096

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs762831069
• gnomAD v4: 2-216478223-T-C
• MyVariant Identifiers: chr2:g.217342946T>C (hg19) ; chr2:g.216478223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478223T>C , CM000664.2:g.216478223T>C	GRCh38
NC_000002.11:g.217342946T>C , CM000664.1:g.217342946T>C	GRCh37
NC_000002.10:g.217051191T>C	NCBI36
NG_009771.1:g.70810T>C , LRG_108:g.70810T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2549T>C	ENSP00000394410.2:p.Ile850Thr
ENST00000430374.6:c.2549T>C	ENSP00000405077.2:p.Ile850Thr
ENST00000444508.6:c.2549T>C	ENSP00000398969.2:p.Ile850Thr
ENST00000697899.1:c.2315T>C	ENSP00000513470.1:p.Ile772Thr
ENST00000697901.1:c.*1304T>C	ENSP00000513471.1:n.*1304T>C
ENST00000697903.1:c.*1036T>C	ENSP00000513472.1:n.*1036T>C
ENST00000697904.1:c.*1036T>C	ENSP00000513473.1:n.*1036T>C
ENST00000697905.1:c.*1036T>C	ENSP00000513474.1:n.*1036T>C
ENST00000697906.1:c.2315T>C	ENSP00000513475.1:p.Ile772Thr
ENST00000697907.1:c.*1407T>C	ENSP00000513476.1:n.*1407T>C
ENST00000697908.1:n.2243T>C
ENST00000697909.1:n.1441T>C
ENST00000697910.1:n.946T>C
ENST00000697911.1:n.855T>C
ENST00000357276.9:c.2549T>C MANE Select	ENSP00000349823.4:p.Ile850Thr
ENST00000357276.8:c.2549T>C	ENSP00000349823.4:p.Ile850Thr
ENST00000358207.9:c.2549T>C	ENSP00000350940.5:p.Ile850Thr
ENST00000392128.6:c.2075T>C	ENSP00000375974.2:p.Ile692Thr
NM_001127207.1:c.2549T>C	NP_001120679.1:p.Ile850Thr
NM_014140.3:c.2549T>C , LRG_108t1:c.2549T>C	NP_054859.2:p.Ile850Thr
XM_005246631.2:c.2549T>C	XP_005246688.1:p.Ile850Thr
XM_005246632.1:c.2549T>C	XP_005246689.1:p.Ile850Thr
XM_006712557.1:c.2483T>C	XP_006712620.1:p.Ile828Thr
XM_005246632.2:c.2549T>C	XP_005246689.1:p.Ile850Thr
XM_017004228.2:c.1637T>C	XP_016859717.1:p.Ile546Thr
NM_001127207.2:c.2549T>C	NP_001120679.1:p.Ile850Thr
NM_014140.4:c.2549T>C MANE Select	NP_054859.2:p.Ile850Thr