Canonical Allele Identifier: CA431403208

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216483038-G-T
• MyVariant Identifiers: chr2:g.217347761G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483038G>T , CM000664.2:g.216483038G>T	GRCh38
NC_000002.11:g.217347761G>T , CM000664.1:g.217347761G>T	GRCh37
NC_000002.10:g.217056006G>T	NCBI36
NG_009771.1:g.75625G>T , LRG_108:g.75625G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697899.1:c.*61G>T	ENSP00000513470.1:n.*61G>T
ENST00000357276.9:c.*61G>T MANE Select	ENSP00000349823.4:n.*61G>T
ENST00000357276.8:c.*61G>T	ENSP00000349823.4:n.*61G>T
NM_001127207.1:c.*61G>T	NP_001120679.1:n.*61G>T
NM_014140.3:c.*61G>T , LRG_108t1:c.*61G>T	NP_054859.2:n.*61G>T
XM_005246631.2:c.*61G>T	XP_005246688.1:n.*61G>T
XM_005246632.1:c.*61G>T	XP_005246689.1:n.*61G>T
XM_006712557.1:c.*61G>T	XP_006712620.1:n.*61G>T
XM_005246632.2:c.*61G>T	XP_005246689.1:n.*61G>T
XM_017004228.2:c.*61G>T	XP_016859717.1:n.*61G>T
NM_001127207.2:c.*61G>T	NP_001120679.1:n.*61G>T
NM_014140.4:c.*61G>T MANE Select	NP_054859.2:n.*61G>T