Canonical Allele Identifier: CA350955992

Gene: ARMC9

Linked Data

• ClinVar Variation Id: 427934
• ClinVar RCV Id: RCV000491387 ; RCV000515484 ; RCV001034539
• dbSNP Id: rs1114167448
• MyVariant Identifiers: chr2:g.232141489G>C (hg19) ; chr2:g.231276776G>C (hg38)
• PubMed: PMID:28625504

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231276776G>C , CM000664.2:g.231276776G>C	GRCh38
NC_000002.11:g.232141489G>C , CM000664.1:g.232141489G>C	GRCh37
NC_000002.10:g.231849733G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428662.6:c.355+1G>C	ENSP00000388527.2:n.355+1G>C
ENST00000436339.6:c.1474+1G>C	ENSP00000392086.2:n.1474+1G>C
ENST00000446447.6:n.524+1G>C
ENST00000469789.2:n.1234+1G>C
ENST00000682002.1:c.1375+1G>C	ENSP00000507152.1:n.1375+1G>C
ENST00000682030.1:c.1471+1G>C	ENSP00000508117.1:n.1471+1G>C
ENST00000682100.1:c.1471+1G>C	ENSP00000507066.1:n.1471+1G>C
ENST00000682264.1:c.*518+1G>C	ENSP00000507212.1:n.*518+1G>C
ENST00000682334.1:c.1474+1G>C	ENSP00000507763.1:n.1474+1G>C
ENST00000682367.1:c.1471+1G>C	ENSP00000507235.1:n.1471+1G>C
ENST00000683040.1:c.1474+1G>C	ENSP00000507817.1:n.1474+1G>C
ENST00000683063.1:c.1348+1G>C	ENSP00000507407.1:n.1348+1G>C
ENST00000683107.1:n.3207+1G>C
ENST00000683112.1:c.1495+1G>C	ENSP00000507357.1:n.1495+1G>C
ENST00000683165.1:n.1620+1G>C
ENST00000683271.1:c.1375+1G>C	ENSP00000507513.1:n.1375+1G>C
ENST00000683275.1:c.1474+1G>C	ENSP00000506823.1:n.1474+1G>C
ENST00000683321.1:c.1474+1G>C	ENSP00000508154.1:n.1474+1G>C
ENST00000683520.1:n.1062+1G>C
ENST00000683553.1:c.1327+1G>C	ENSP00000506860.1:n.1327+1G>C
ENST00000683575.1:c.1474+1G>C	ENSP00000507743.1:n.1474+1G>C
ENST00000683629.1:c.1474+1G>C	ENSP00000507960.1:n.1474+1G>C
ENST00000683702.1:c.1474+1G>C	ENSP00000507686.1:n.1474+1G>C
ENST00000683814.1:n.1785+1G>C
ENST00000683966.1:c.1471+1G>C	ENSP00000507325.1:n.1471+1G>C
ENST00000684011.1:n.1579+1G>C
ENST00000684051.1:c.1474+1G>C	ENSP00000507854.1:n.1474+1G>C
ENST00000684224.1:n.1029G>C
ENST00000684368.1:c.*2675+1G>C	ENSP00000508353.1:n.*2675+1G>C
ENST00000684432.1:c.1474+1G>C	ENSP00000508405.1:n.1474+1G>C
ENST00000684565.1:c.1474+1G>C	ENSP00000507599.1:n.1474+1G>C
ENST00000684718.1:c.1474+1G>C	ENSP00000507543.1:n.1474+1G>C
ENST00000611582.5:c.1474+1G>C MANE Select	ENSP00000484804.1:n.1474+1G>C
ENST00000349938.8:c.1474+1G>C	ENSP00000258417.5:n.1474+1G>C
ENST00000428662.5:c.356+1G>C
ENST00000436339.5:c.626G>C
ENST00000446447.5:c.400+1G>C	ENSP00000411778.1:n.400+1G>C
ENST00000467698.5:n.495+1G>C
ENST00000481520.1:n.594+1G>C
ENST00000611582.4:c.1474+1G>C	ENSP00000484804.1:n.1474+1G>C
ENST00000614261.4:c.1474+1G>C	ENSP00000484241.1:n.1474+1G>C
NM_001271466.2:c.1474+1G>C	NP_001258395.1:n.1474+1G>C
NM_001291656.1:c.1474+1G>C	NP_001278585.1:n.1474+1G>C
NM_025139.5:c.1474+1G>C	NP_079415.3:n.1474+1G>C
XM_011511905.1:c.1474+1G>C	XP_011510207.1:n.1474+1G>C
XM_011511906.1:c.1474+1G>C	XP_011510208.1:n.1474+1G>C
XM_011511907.1:c.1375+1G>C	XP_011510209.1:n.1375+1G>C
XM_011511908.1:c.1474+1G>C	XP_011510210.1:n.1474+1G>C
XM_011511909.1:c.1474+1G>C	XP_011510211.1:n.1474+1G>C
XM_011511910.1:c.1474+1G>C	XP_011510212.1:n.1474+1G>C
XM_011511911.1:c.1474+1G>C	XP_011510213.1:n.1474+1G>C
XM_011511912.1:c.1474+1G>C	XP_011510214.1:n.1474+1G>C
XM_011511913.1:c.1474+1G>C	XP_011510215.1:n.1474+1G>C
XM_011511914.1:c.1474+1G>C	XP_011510216.1:n.1474+1G>C
XM_011511915.1:c.1474+1G>C	XP_011510217.1:n.1474+1G>C
XM_011511916.1:c.1474+1G>C	XP_011510218.1:n.1474+1G>C
XM_011511917.1:c.1474+1G>C	XP_011510219.1:n.1474+1G>C
XM_011511918.1:c.1474+1G>C	XP_011510220.1:n.1474+1G>C
XM_011511919.1:c.400+1G>C	XP_011510221.1:n.400+1G>C
XM_011511920.1:c.1474+1G>C	XP_011510222.1:n.1474+1G>C
XR_923031.1:n.1586+1G>C
XR_923032.1:n.1586+1G>C
NM_001271466.3:c.1474+1G>C	NP_001258395.1:n.1474+1G>C
NM_001352754.1:c.1474+1G>C	NP_001339683.1:n.1474+1G>C
NM_001352755.1:c.1474+1G>C	NP_001339684.1:n.1474+1G>C
NM_001352756.1:c.1474+1G>C	NP_001339685.1:n.1474+1G>C
NM_001352757.1:c.1375+1G>C	NP_001339686.1:n.1375+1G>C
NM_001352758.1:c.1375+1G>C	NP_001339687.1:n.1375+1G>C
NM_001352759.1:c.1474+1G>C	NP_001339688.1:n.1474+1G>C
NR_148040.1:n.1668+1G>C
XM_011511908.2:c.1474+1G>C	XP_011510210.1:n.1474+1G>C
XM_011511909.2:c.1474+1G>C	XP_011510211.1:n.1474+1G>C
XM_011511913.2:c.1474+1G>C	XP_011510215.1:n.1474+1G>C
XM_011511914.2:c.1474+1G>C	XP_011510216.1:n.1474+1G>C
XM_011511915.2:c.1474+1G>C	XP_011510217.1:n.1474+1G>C
XM_011511916.2:c.1474+1G>C	XP_011510218.1:n.1474+1G>C
XM_011511919.2:c.400+1G>C	XP_011510221.1:n.400+1G>C
XM_017005021.1:c.1474+1G>C	XP_016860510.1:n.1474+1G>C
XM_017005022.1:c.1474+1G>C	XP_016860511.1:n.1474+1G>C
XM_017005024.1:c.1375+1G>C	XP_016860513.1:n.1375+1G>C
XM_017005025.1:c.1474+1G>C	XP_016860514.1:n.1474+1G>C
NM_001271466.4:c.1474+1G>C	NP_001258395.2:n.1474+1G>C
NM_001291656.2:c.1474+1G>C	NP_001278585.2:n.1474+1G>C
NM_001352754.2:c.1474+1G>C MANE Select	NP_001339683.2:n.1474+1G>C
NM_001352755.2:c.1474+1G>C	NP_001339684.2:n.1474+1G>C
NM_001352756.2:c.1474+1G>C	NP_001339685.2:n.1474+1G>C
NM_001352757.2:c.1375+1G>C	NP_001339686.2:n.1375+1G>C
NM_001352758.2:c.1375+1G>C	NP_001339687.2:n.1375+1G>C
NM_001352759.2:c.1474+1G>C	NP_001339688.2:n.1474+1G>C
NM_025139.6:c.1474+1G>C	NP_079415.4:n.1474+1G>C
NR_148040.2:n.1583+1G>C