Canonical Allele Identifier: CA382527560

Gene: ATM

Linked Data

• ClinVar Variation Id: 2159690
• ClinVar RCV Id: RCV003072952 ; RCV003161749
• gnomAD v4: 11-108243980-A-G
• MyVariant Identifiers: chr11:g.108114707A>G (hg19) ; chr11:g.108243980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243980A>G , CM000673.2:g.108243980A>G	GRCh38
NC_000011.9:g.108114707A>G , CM000673.1:g.108114707A>G	GRCh37
NC_000011.8:g.107619917A>G	NCBI36
NG_009830.1:g.26149A>G , LRG_135:g.26149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.524A>G	ENSP00000388058.2:p.Tyr175Cys
ENST00000713593.1:c.502A>G	ENSP00000518889.1:p.Ile168Val
ENST00000278616.9:c.524A>G	ENSP00000278616.4:p.Tyr175Cys
ENST00000682430.1:n.623A>G
ENST00000682516.1:n.658A>G
ENST00000682956.1:n.658A>G
ENST00000683100.1:n.2202A>G
ENST00000683174.1:n.674A>G
ENST00000683605.1:n.19A>G
ENST00000684037.1:c.524A>G	ENSP00000508245.1:p.Tyr175Cys
ENST00000684061.1:n.658A>G
ENST00000684179.1:n.493A>G
ENST00000527805.6:c.524A>G	ENSP00000435747.2:p.Tyr175Cys
ENST00000675595.1:c.359A>G	ENSP00000502563.1:p.Tyr120Cys
ENST00000675843.1:c.524A>G MANE Select	ENSP00000501606.1:p.Tyr175Cys
ENST00000278616.8:c.524A>G	ENSP00000278616.4:p.Tyr175Cys
ENST00000452508.6:c.524A>G	ENSP00000388058.2:p.Tyr175Cys
ENST00000527805.5:c.524A>G	ENSP00000435747.1:p.Tyr175Cys
ENST00000527891.5:c.359A>G	ENSP00000433955.1:p.Tyr120Cys
NM_000051.3:c.524A>G , LRG_135t1:c.524A>G	NP_000042.3:p.Tyr175Cys
XM_005271561.3:c.524A>G	XP_005271618.2:p.Tyr175Cys
XM_005271562.3:c.524A>G	XP_005271619.2:p.Tyr175Cys
XM_006718843.2:c.524A>G	XP_006718906.1:p.Tyr175Cys
XM_011542840.1:c.524A>G	XP_011541142.1:p.Tyr175Cys
XM_011542841.1:c.524A>G	XP_011541143.1:p.Tyr175Cys
XM_011542842.1:c.359A>G	XP_011541144.1:p.Tyr120Cys
XM_011542843.1:c.524A>G	XP_011541145.1:p.Tyr175Cys
XM_011542844.1:c.-521A>G	XP_011541146.1:n.-521A>G
XM_011542846.1:c.524A>G	XP_011541148.1:p.Tyr175Cys
NM_001351834.1:c.524A>G	NP_001338763.1:p.Tyr175Cys
XM_005271562.5:c.524A>G	XP_005271619.2:p.Tyr175Cys
XM_006718843.4:c.524A>G	XP_006718906.1:p.Tyr175Cys
XM_011542840.3:c.524A>G	XP_011541142.1:p.Tyr175Cys
XM_011542842.3:c.359A>G	XP_011541144.1:p.Tyr120Cys
XM_011542843.2:c.524A>G	XP_011541145.1:p.Tyr175Cys
XM_011542844.3:c.-521A>G	XP_011541146.1:n.-521A>G
XM_017017789.2:c.524A>G	XP_016873278.1:p.Tyr175Cys
XM_017017790.2:c.524A>G	XP_016873279.1:p.Tyr175Cys
XM_017017791.1:c.524A>G	XP_016873280.1:p.Tyr175Cys
XM_017017792.2:c.524A>G	XP_016873281.1:p.Tyr175Cys
XR_002957150.1:n.1257A>G
NM_001351834.2:c.524A>G	NP_001338763.1:p.Tyr175Cys
NM_000051.4:c.524A>G MANE Select	NP_000042.3:p.Tyr175Cys