Canonical Allele Identifier: CA1042324883

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1695098127
• gnomAD v3: 2-216477049-C-T
• gnomAD v4: 2-216477049-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477049C>T , CM000664.2:g.216477049C>T	GRCh38
NC_000002.11:g.217341772C>T , CM000664.1:g.217341772C>T	GRCh37
NC_000002.10:g.217050017C>T	NCBI36
NG_009771.1:g.69636C>T , LRG_108:g.69636C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2428-60C>T	ENSP00000394410.2:n.2428-60C>T
ENST00000430374.6:c.2428-60C>T	ENSP00000405077.2:n.2428-60C>T
ENST00000444508.6:c.2428-60C>T	ENSP00000398969.2:n.2428-60C>T
ENST00000697899.1:c.2194-60C>T	ENSP00000513470.1:n.2194-60C>T
ENST00000697901.1:c.*1183-60C>T	ENSP00000513471.1:n.*1183-60C>T
ENST00000697903.1:c.*915-60C>T	ENSP00000513472.1:n.*915-60C>T
ENST00000697904.1:c.*915-60C>T	ENSP00000513473.1:n.*915-60C>T
ENST00000697905.1:c.*915-60C>T	ENSP00000513474.1:n.*915-60C>T
ENST00000697906.1:c.2194-60C>T	ENSP00000513475.1:n.2194-60C>T
ENST00000697907.1:c.*1286-60C>T	ENSP00000513476.1:n.*1286-60C>T
ENST00000697908.1:n.2122-60C>T
ENST00000697909.1:n.1320-60C>T
ENST00000697910.1:n.825-60C>T
ENST00000697911.1:n.734-60C>T
ENST00000357276.9:c.2428-60C>T MANE Select	ENSP00000349823.4:n.2428-60C>T
ENST00000357276.8:c.2428-60C>T	ENSP00000349823.4:n.2428-60C>T
ENST00000358207.9:c.2428-60C>T	ENSP00000350940.5:n.2428-60C>T
ENST00000392128.6:c.1954-60C>T	ENSP00000375974.2:n.1954-60C>T
NM_001127207.1:c.2428-60C>T	NP_001120679.1:n.2428-60C>T
NM_014140.3:c.2428-60C>T , LRG_108t1:c.2428-60C>T	NP_054859.2:n.2428-60C>T
XM_005246631.2:c.2428-60C>T	XP_005246688.1:n.2428-60C>T
XM_005246632.1:c.2428-60C>T	XP_005246689.1:n.2428-60C>T
XM_006712557.1:c.2362-60C>T	XP_006712620.1:n.2362-60C>T
XM_005246632.2:c.2428-60C>T	XP_005246689.1:n.2428-60C>T
XM_017004228.2:c.1516-60C>T	XP_016859717.1:n.1516-60C>T
NM_001127207.2:c.2428-60C>T	NP_001120679.1:n.2428-60C>T
NM_014140.4:c.2428-60C>T MANE Select	NP_054859.2:n.2428-60C>T