Canonical Allele Identifier: CA009269

Gene: RET

Linked Data

• ClinVar Variation Id: 41844
• ClinVar RCV Id: RCV000034776 ; RCV000410582 ; RCV000411681 ; RCV000701145 ; RCV001023532
• dbSNP Id: rs200547906
• ExAC: 10:43597961 C / T
• gnomAD v2: 10-43597961-C-T
• gnomAD v3: 10-43102513-C-T
• gnomAD v4: 10-43102513-C-T
• MyVariant Identifiers: chr10:g.43597961C>T (hg19) ; chr10:g.43102513C>T (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43102513C>T , CM000672.2:g.43102513C>T	GRCh38
NC_000010.10:g.43597961C>T , CM000672.1:g.43597961C>T	GRCh37
NC_000010.9:g.42917967C>T	NCBI36
NG_007489.1:g.30445C>T , LRG_518:g.30445C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.509C>T	ENSP00000480088.2:p.Thr170Ile
ENST00000683278.1:c.430C>T
ENST00000684216.1:c.411C>T
ENST00000340058.6:c.509C>T	ENSP00000344798.4:p.Thr170Ile
ENST00000355710.8:c.509C>T MANE Select	ENSP00000347942.3:p.Thr170Ile
ENST00000638465.1:c.451C>T
ENST00000640619.1:c.282C>T
ENST00000671844.1:c.509C>T	ENSP00000500541.1:p.Thr170Ile
ENST00000672389.1:c.74-8694C>T	ENSP00000500252.1:n.74-8694C>T
ENST00000340058.5:c.509C>T	ENSP00000344798.4:p.Thr170Ile
ENST00000355710.7:c.509C>T	ENSP00000347942.3:p.Thr170Ile
ENST00000498820.5:c.74-9586C>T	ENSP00000419080.1:n.74-9586C>T
ENST00000615310.4:c.509C>T	ENSP00000480088.1:p.Thr170Ile
NM_020630.4:c.509C>T , LRG_518t2:c.509C>T	NP_065681.1:p.Thr170Ile
NM_020975.4:c.509C>T , LRG_518t1:c.509C>T	NP_066124.1:p.Thr170Ile
XM_011540027.1:c.509C>T	XP_011538329.1:p.Thr170Ile
NM_020630.5:c.509C>T	NP_065681.1:p.Thr170Ile
NM_020975.5:c.509C>T	NP_066124.1:p.Thr170Ile
NM_020975.6:c.509C>T MANE Select	NP_066124.1:p.Thr170Ile
NM_020630.6:c.509C>T	NP_065681.1:p.Thr170Ile