Canonical Allele Identifier: CA382616381

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086723-T-A
• MyVariant Identifiers: chr11:g.111957447T>A (hg19) ; chr11:g.112086723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086723T>A , CM000673.2:g.112086723T>A	GRCh38
NC_000011.9:g.111957447T>A , CM000673.1:g.111957447T>A	GRCh37
NC_000011.8:g.111462657T>A	NCBI36
NG_012337.2:g.4877T>A
NG_033145.1:g.5076A>T
NG_012337.3:g.4877T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.1A>T MANE Select	ENSP00000422122.2:p.Met1Leu
ENST00000504148.2:c.1A>T	ENSP00000422122.2:p.Met1Leu
ENST00000509359.6:c.1A>T	ENSP00000421964.2:p.Met1Leu
ENST00000541231.1:c.46A>T	ENSP00000438455.1:p.Met16Leu
NM_012459.2:c.46A>T	NP_036591.2:p.Met16Leu
NR_028383.1:n.76A>T
NM_012459.3:c.1A>T	NP_036591.3:p.Met1Leu
NR_028383.2:n.34A>T
NR_160400.1:n.34A>T
NM_012459.4:c.1A>T MANE Select	NP_036591.3:p.Met1Leu