Canonical Allele Identifier: CA360097347
Gene: SMN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.70241998T>G (hg19) chr5:g.70946171T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946171T>G , CM000667.2:g.70946171T>G GRCh38
NC_000005.9:g.70241998T>G , CM000667.1:g.70241998T>G GRCh37
NC_000005.8:g.70277754T>G NCBI36
NG_008691.1:g.26231T>G , LRG_676:g.26231T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.829T>G MANE Select ENSP00000370083.4:p.Tyr277Asp
ENST00000351205.8:c.829T>G ENSP00000305857.5:p.Tyr277Asp
ENST00000380707.8:c.829T>G ENSP00000370083.4:p.Tyr277Asp
ENST00000503079.6:c.733T>G ENSP00000428128.1:p.Tyr245Asp
ENST00000506163.5:c.829T>G ENSP00000424926.1:p.Tyr277Asp
ENST00000506239.6:c.829T>G ENSP00000422679.2:p.Tyr277Asp
ENST00000510679.1:n.83T>G
ENST00000513228.1:n.396T>G
ENST00000514951.5:c.628T>G ENSP00000423298.1:p.Tyr210Asp
ENST00000518504.5:n.346T>G
ENST00000625245.2:c.829T>G ENSP00000486539.1:p.Tyr277Asp
NM_000344.3:c.829T>G , LRG_676t1:c.829T>G NP_000335.1:p.Tyr277Asp
NM_001297715.1:c.829T>G NP_001284644.1:p.Tyr277Asp
NM_022874.2:c.733T>G NP_075012.1:p.Tyr245Asp
XM_011543596.1:c.829T>G XP_011541898.1:p.Tyr277Asp
XM_011543597.1:c.628T>G XP_011541899.1:p.Tyr210Asp
XM_011543598.1:c.532T>G XP_011541900.1:p.Tyr178Asp
XM_011543598.3:c.532T>G XP_011541900.1:p.Tyr178Asp
XM_017009786.1:c.733T>G XP_016865275.1:p.Tyr245Asp
NM_000344.4:c.829T>G MANE Select NP_000335.1:p.Tyr277Asp
Search 100 bp 5'
Search 100 bp 3'