LDH info

Canonical Allele Identifier: CA128484
Gene: ACVR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 29597
ClinVar RCV Id: RCV000022434
dbSNP Id: rs387906591

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157774126C>A , CM000664.2:g.157774126C>A GRCh38
NC_000002.11:g.158630638C>A , CM000664.1:g.158630638C>A GRCh37
NC_000002.10:g.158338884C>A NCBI36
NG_008004.1:g.105986G>T

Transcript Alleles

HGVS Amino-acid change
NM_001105.4:c.605G>T VV NP_001096.1:p.Arg202Ile
NM_001111067.2:c.605G>T VV NP_001104537.1:p.Arg202Ile
XM_005246939.2:c.605G>T XP_005246996.1:p.Arg202Ile
XM_005246940.2:c.605G>T XP_005246997.1:p.Arg202Ile
XM_006712825.2:c.605G>T XP_006712888.1:p.Arg202Ile
XM_011512106.1:c.605G>T XP_011510408.1:p.Arg202Ile
XM_011512107.1:c.605G>T XP_011510409.1:p.Arg202Ile
XM_011512108.1:c.605G>T XP_011510410.1:p.Arg202Ile
NM_001347663.1:c.605G>T VV NP_001334592.1:p.Arg202Ile
NM_001347664.1:c.605G>T VV NP_001334593.1:p.Arg202Ile
NM_001347665.1:c.605G>T VV NP_001334594.1:p.Arg202Ile
NM_001347666.1:c.605G>T VV NP_001334595.1:p.Arg202Ile
NM_001347667.1:c.605G>T VV NP_001334596.1:p.Arg202Ile
XM_006712825.4:c.605G>T XP_006712888.1:p.Arg202Ile
XM_011512108.3:c.605G>T XP_011510410.1:p.Arg202Ile
NM_001105.5:c.605G>T VV NP_001096.1:p.Arg202Ile
NM_001111067.4:c.605G>T VV MANE Preferred NP_001104537.1:p.Arg202Ile
NM_001347667.2:c.605G>T VV NP_001334596.1:p.Arg202Ile
ENST00000263640.7:c.605G>T ENSP00000263640.3:p.Arg202Ile
ENST00000409283.6:c.605G>T ENSP00000387273.2:p.Arg202Ile
ENST00000410057.6:c.605G>T ENSP00000387127.2:p.Arg202Ile
ENST00000434821.5:c.605G>T ENSP00000405004.1:p.Arg202Ile