Canonical Allele Identifier: CA1277391

Gene: TEDDM1

Linked Data

• ClinVar Variation Id: 2339009
• ClinVar RCV Id: RCV004182828
• dbSNP Id: rs372377307
• ExAC: 1:182369361 A / T
• gnomAD v2: 1-182369361-A-T
• gnomAD v3: 1-182400226-A-T
• gnomAD v4: 1-182400226-A-T
• MyVariant Identifiers: chr1:g.182369361A>T (hg19) ; chr1:g.182400226A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182400226A>T , CM000663.2:g.182400226A>T	GRCh38
NC_000001.10:g.182369361A>T , CM000663.1:g.182369361A>T	GRCh37
NC_000001.9:g.180635984A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367565.2:c.260T>A MANE Select	ENSP00000356536.1:p.Met87Lys
ENST00000367565.1:c.260T>A	ENSP00000356536.1:p.Met87Lys
NM_172000.3:c.260T>A	NP_741997.3:p.Met87Lys
XR_922342.1:n.82-4395A>T
NM_172000.4:c.260T>A MANE Select	NP_741997.3:p.Met87Lys