Canonical Allele Identifier: CA414550191

Gene: SMARCA1

Linked Data

• MyVariant Identifiers: chrX:g.128657347T>A (hg19) ; chrX:g.129523370T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129523370T>A , CM000685.2:g.129523370T>A	GRCh38
NC_000023.10:g.128657347T>A , CM000685.1:g.128657347T>A	GRCh37
NC_000023.9:g.128485028T>A	NCBI36
NG_012526.1:g.5114A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371121.5:c.1A>T MANE Select	ENSP00000360162.4:p.Met1Leu
ENST00000371121.4:c.1A>T	ENSP00000360162.4:p.Met1Leu
ENST00000371122.8:c.1A>T	ENSP00000360163.4:p.Met1Leu
ENST00000371123.5:c.1A>T	ENSP00000360164.2:p.Met1Leu
ENST00000617310.4:n.95A>T
NM_001282874.1:c.1A>T	NP_001269803.1:p.Met1Leu
NM_001282875.1:c.1A>T	NP_001269804.1:p.Met1Leu
NM_003069.4:c.1A>T	NP_003060.2:p.Met1Leu
XM_005262461.1:c.1A>T	XP_005262518.1:p.Met1Leu
XM_005262462.1:c.1A>T	XP_005262519.1:p.Met1Leu
XM_006724782.1:c.1A>T	XP_006724845.1:p.Met1Leu
XM_005262461.2:c.1A>T	XP_005262518.1:p.Met1Leu
XM_005262462.2:c.1A>T	XP_005262519.1:p.Met1Leu
XM_006724782.2:c.1A>T	XP_006724845.1:p.Met1Leu
XM_017029750.1:c.1A>T	XP_016885239.1:p.Met1Leu
XM_017029751.1:c.1A>T	XP_016885240.1:p.Met1Leu
NM_001282874.2:c.1A>T MANE Select	NP_001269803.1:p.Met1Leu
NM_001282875.2:c.1A>T	NP_001269804.1:p.Met1Leu
NM_003069.5:c.1A>T	NP_003060.2:p.Met1Leu
NM_001378261.1:c.1A>T	NP_001365190.1:p.Met1Leu
NM_001378262.1:c.1A>T	NP_001365191.1:p.Met1Leu
NM_001378263.1:c.1A>T	NP_001365192.1:p.Met1Leu
NM_001378264.1:c.1A>T	NP_001365193.1:p.Met1Leu