Canonical Allele Identifier: CA040257

Gene: RET

Linked Data

• ClinVar Variation Id: 2812459
• ClinVar RCV Id: RCV003646258
• dbSNP Id: rs141679950
• ExAC: 10:43596095 A / C
• gnomAD v2: 10-43596095-A-C
• gnomAD v3: 10-43100647-A-C
• gnomAD v4: 10-43100647-A-C
• MyVariant Identifiers: chr10:g.43596095A>C (hg19) ; chr10:g.43100647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100647A>C , CM000672.2:g.43100647A>C	GRCh38
NC_000010.10:g.43596095A>C , CM000672.1:g.43596095A>C	GRCh37
NC_000010.9:g.42916101A>C	NCBI36
NG_007489.1:g.28579A>C , LRG_518:g.28579A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.262A>C	ENSP00000480088.2:p.Ile88Leu
ENST00000683278.1:c.164A>C
ENST00000684216.1:c.164A>C
ENST00000340058.6:c.262A>C	ENSP00000344798.4:p.Ile88Leu
ENST00000355710.8:c.262A>C MANE Select	ENSP00000347942.3:p.Ile88Leu
ENST00000638465.1:c.164A>C
ENST00000640619.1:c.164A>C
ENST00000671844.1:c.262A>C	ENSP00000500541.1:p.Ile88Leu
ENST00000672389.1:c.74-10560A>C	ENSP00000500252.1:n.74-10560A>C
ENST00000340058.5:c.262A>C	ENSP00000344798.4:p.Ile88Leu
ENST00000355710.7:c.262A>C	ENSP00000347942.3:p.Ile88Leu
ENST00000498820.5:c.74-11452A>C	ENSP00000419080.1:n.74-11452A>C
ENST00000615310.4:c.262A>C	ENSP00000480088.1:p.Ile88Leu
NM_020630.4:c.262A>C , LRG_518t2:c.262A>C	NP_065681.1:p.Ile88Leu
NM_020975.4:c.262A>C , LRG_518t1:c.262A>C	NP_066124.1:p.Ile88Leu
XM_011540027.1:c.262A>C	XP_011538329.1:p.Ile88Leu
NM_020630.5:c.262A>C	NP_065681.1:p.Ile88Leu
NM_020975.5:c.262A>C	NP_066124.1:p.Ile88Leu
NM_020975.6:c.262A>C MANE Select	NP_066124.1:p.Ile88Leu
NM_020630.6:c.262A>C	NP_065681.1:p.Ile88Leu