Canonical Allele Identifier: CA410372628

Gene: TMPRSS3

Linked Data

• MyVariant Identifiers: chr21:g.43802268C>G (hg19) ; chr21:g.42382159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382159C>G , CM000683.2:g.42382159C>G	GRCh38
NC_000021.8:g.43802268C>G , CM000683.1:g.43802268C>G	GRCh37
NC_000021.7:g.42675337C>G	NCBI36
NG_011629.1:g.18933G>C
NG_011629.2:g.18933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.858G>C	ENSP00000411013.3:p.Leu286Phe
ENST00000644384.2:c.858G>C MANE Select	ENSP00000494414.1:p.Leu286Phe
ENST00000652415.1:c.858G>C	ENSP00000498756.1:p.Leu286Phe
ENST00000291532.7:c.858G>C	ENSP00000291532.3:p.Leu286Phe
ENST00000398397.3:c.858G>C	ENSP00000381434.3:p.Leu286Phe
ENST00000398405.5:c.852G>C	ENSP00000381442.1:p.Leu284Phe
ENST00000433957.6:c.858G>C	ENSP00000411013.2:p.Leu286Phe
ENST00000474596.5:n.726G>C
ENST00000476848.5:n.1593G>C
ENST00000478680.1:n.135G>C
ENST00000482761.1:n.1145G>C
NM_001256317.1:c.858G>C	NP_001243246.1:p.Leu286Phe
NM_024022.2:c.858G>C	NP_076927.1:p.Leu286Phe
NM_032404.2:c.477G>C	NP_115780.1:p.Leu159Phe
NM_032405.1:c.858G>C	NP_115781.1:p.Leu286Phe
NR_046020.1:n.1814G>C
NM_001256317.2:c.858G>C	NP_001243246.1:p.Leu286Phe
NM_024022.3:c.858G>C	NP_076927.1:p.Leu286Phe
NM_032405.2:c.858G>C	NP_115781.1:p.Leu286Phe
NM_001256317.3:c.858G>C MANE Select	NP_001243246.1:p.Leu286Phe
NM_024022.4:c.858G>C	NP_076927.1:p.Leu286Phe
NM_032404.3:c.477G>C	NP_115780.1:p.Leu159Phe