Canonical Allele Identifier: CA410374748

Gene: TMPRSS3

Linked Data

• MyVariant Identifiers: chr21:g.43805522C>A (hg19) ; chr21:g.42385413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385413C>A , CM000683.2:g.42385413C>A	GRCh38
NC_000021.8:g.43805522C>A , CM000683.1:g.43805522C>A	GRCh37
NC_000021.7:g.42678591C>A	NCBI36
NG_011629.1:g.15679G>T
NG_011629.2:g.15679G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.568G>T	ENSP00000411013.3:p.Val190Leu
ENST00000644384.2:c.568G>T MANE Select	ENSP00000494414.1:p.Val190Leu
ENST00000652415.1:c.568G>T	ENSP00000498756.1:p.Val190Leu
ENST00000291532.7:c.568G>T	ENSP00000291532.3:p.Val190Leu
ENST00000398397.3:c.568G>T	ENSP00000381434.3:p.Val190Leu
ENST00000398405.5:c.562G>T	ENSP00000381442.1:p.Val188Leu
ENST00000433957.6:c.568G>T	ENSP00000411013.2:p.Val190Leu
ENST00000474596.5:n.436G>T
ENST00000482761.1:n.855G>T
NM_001256317.1:c.568G>T	NP_001243246.1:p.Val190Leu
NM_024022.2:c.568G>T	NP_076927.1:p.Val190Leu
NM_032404.2:c.187G>T	NP_115780.1:p.Val63Leu
NM_032405.1:c.568G>T	NP_115781.1:p.Val190Leu
NR_046020.1:n.1524G>T
NM_001256317.2:c.568G>T	NP_001243246.1:p.Val190Leu
NM_024022.3:c.568G>T	NP_076927.1:p.Val190Leu
NM_032405.2:c.568G>T	NP_115781.1:p.Val190Leu
NM_001256317.3:c.568G>T MANE Select	NP_001243246.1:p.Val190Leu
NM_024022.4:c.568G>T	NP_076927.1:p.Val190Leu
NM_032404.3:c.187G>T	NP_115780.1:p.Val63Leu