Canonical Allele Identifier: CA208516

Gene: TPM3

Linked Data

• ClinVar Variation Id: 212413
• ClinVar RCV Id: RCV000194376 ; RCV000549857 ; RCV001085350 ; RCV001098781 ; RCV001100612 ; RCV003907708
• dbSNP Id: rs62000429
• ExAC: 1:154164403 T / G
• gnomAD v2: 1-154164403-T-G
• gnomAD v3: 1-154191927-T-G
• gnomAD v4: 1-154191927-T-G
• MyVariant Identifiers: chr1:g.154164403T>G (hg19) ; chr1:g.154191927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154191927T>G , CM000663.2:g.154191927T>G	GRCh38
NC_000001.10:g.154164403T>G , CM000663.1:g.154164403T>G	GRCh37
NC_000001.9:g.152431027T>G	NCBI36
NG_008621.1:g.5207A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368530.7:c.92A>C	ENSP00000357516.3:p.Lys31Thr
ENST00000651641.1:c.92A>C MANE Select	ENSP00000498577.1:p.Lys31Thr
ENST00000651644.1:c.92A>C	ENSP00000498648.1:p.Lys31Thr
ENST00000271850.11:c.92A>C	ENSP00000271850.7:p.Lys31Thr
ENST00000368530.6:c.92A>C	ENSP00000357516.2:p.Lys31Thr
ENST00000466010.1:n.22A>C
ENST00000515609.1:c.92A>C	ENSP00000426306.1:p.Lys31Thr
NM_152263.3:c.92A>C	NP_689476.2:p.Lys31Thr
NR_103460.1:n.141A>C
XM_006711515.1:c.92A>C	XP_006711578.1:p.Lys31Thr
XM_006711517.1:c.92A>C	XP_006711580.1:p.Lys31Thr
XM_006711518.1:c.92A>C	XP_006711581.1:p.Lys31Thr
XM_006711519.1:c.92A>C	XP_006711582.1:p.Lys31Thr
XM_006711520.1:c.92A>C	XP_006711583.1:p.Lys31Thr
XM_006711521.1:c.92A>C	XP_006711584.1:p.Lys31Thr
XM_011509950.1:c.92A>C	XP_011508252.1:p.Lys31Thr
XM_011509951.1:c.92A>C	XP_011508253.1:p.Lys31Thr
NM_001364679.1:c.92A>C	NP_001351608.1:p.Lys31Thr
NM_001364680.1:c.92A>C	NP_001351609.1:p.Lys31Thr
NM_001364681.1:c.92A>C	NP_001351610.1:p.Lys31Thr
NM_001364682.1:c.92A>C	NP_001351611.1:p.Lys31Thr
NM_152263.4:c.92A>C MANE Select	NP_689476.2:p.Lys31Thr
NM_001364679.2:c.92A>C	NP_001351608.1:p.Lys31Thr
NM_001364680.2:c.92A>C	NP_001351609.1:p.Lys31Thr
NM_001364681.2:c.92A>C	NP_001351610.1:p.Lys31Thr
NR_103460.2:n.174A>C