Canonical Allele Identifier: CA350505108

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217343024T>C (hg19) ; chr2:g.216478301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478301T>C , CM000664.2:g.216478301T>C	GRCh38
NC_000002.11:g.217343024T>C , CM000664.1:g.217343024T>C	GRCh37
NC_000002.10:g.217051269T>C	NCBI36
NG_009771.1:g.70888T>C , LRG_108:g.70888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2625+2T>C	ENSP00000394410.2:n.2625+2T>C
ENST00000430374.6:c.2625+2T>C	ENSP00000405077.2:n.2625+2T>C
ENST00000444508.6:c.2625+2T>C	ENSP00000398969.2:n.2625+2T>C
ENST00000697899.1:c.2391+2T>C	ENSP00000513470.1:n.2391+2T>C
ENST00000697901.1:c.*1380+2T>C	ENSP00000513471.1:n.*1380+2T>C
ENST00000697903.1:c.*1112+2T>C	ENSP00000513472.1:n.*1112+2T>C
ENST00000697904.1:c.*1112+2T>C	ENSP00000513473.1:n.*1112+2T>C
ENST00000697905.1:c.*1112+2T>C	ENSP00000513474.1:n.*1112+2T>C
ENST00000697906.1:c.2391+2T>C	ENSP00000513475.1:n.2391+2T>C
ENST00000697907.1:c.*1483+2T>C	ENSP00000513476.1:n.*1483+2T>C
ENST00000697908.1:n.2321T>C
ENST00000697909.1:n.1517+2T>C
ENST00000697910.1:n.1022+2T>C
ENST00000697911.1:n.933T>C
ENST00000357276.9:c.2625+2T>C MANE Select	ENSP00000349823.4:n.2625+2T>C
ENST00000357276.8:c.2625+2T>C	ENSP00000349823.4:n.2625+2T>C
ENST00000358207.9:c.2625+2T>C	ENSP00000350940.5:n.2625+2T>C
ENST00000392128.6:c.2151+2T>C	ENSP00000375974.2:n.2151+2T>C
NM_001127207.1:c.2625+2T>C	NP_001120679.1:n.2625+2T>C
NM_014140.3:c.2625+2T>C , LRG_108t1:c.2625+2T>C	NP_054859.2:n.2625+2T>C
XM_005246631.2:c.2625+2T>C	XP_005246688.1:n.2625+2T>C
XM_005246632.1:c.2625+2T>C	XP_005246689.1:n.2625+2T>C
XM_006712557.1:c.2559+2T>C	XP_006712620.1:n.2559+2T>C
XM_005246632.2:c.2625+2T>C	XP_005246689.1:n.2625+2T>C
XM_017004228.2:c.1713+2T>C	XP_016859717.1:n.1713+2T>C
NM_001127207.2:c.2625+2T>C	NP_001120679.1:n.2625+2T>C
NM_014140.4:c.2625+2T>C MANE Select	NP_054859.2:n.2625+2T>C