Canonical Allele Identifier: CA395139636
Community Standard Title: NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607937T>C , CM000678.2:g.23607937T>C GRCh38
NC_000016.9:g.23619258T>C , CM000678.1:g.23619258T>C GRCh37
NC_000016.8:g.23526759T>C NCBI36
NG_007406.1:g.38421A>G , LRG_308:g.38421A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3277A>G MANE Select NP_078951.2:p.Ile1093Val
ENST00000261584.9:c.3277A>G MANE Select ENSP00000261584.4:p.Ile1093Val
NM_024675.3:c.3277A>G , LRG_308t1:c.3277A>G NP_078951.2:p.Ile1093Val
ENST00000261584.8:c.3277A>G ENSP00000261584.4:p.Ile1093Val
ENST00000561514.2:c.2392A>G ENSP00000460666.2:p.Ile798Val
ENST00000561514.3:c.3283A>G ENSP00000460666.3:p.Ile1095Val
ENST00000565038.2:c.*758A>G ENSP00000459882.2:n.*758A>G
ENST00000566069.5:c.117-4268A>G
ENST00000566069.6:c.3202-4268A>G ENSP00000459237.2:n.3202-4268A>G
ENST00000568219.5:c.2392A>G ENSP00000454703.2:p.Ile798Val
ENST00000697374.1:c.2392A>G ENSP00000513284.1:p.Ile798Val
ENST00000697375.1:n.4624A>G
ENST00000697376.1:c.2317-4268A>G ENSP00000513285.1:n.2317-4268A>G
ENST00000697377.1:c.2230A>G ENSP00000513286.1:p.Ile744Val
ENST00000697377.2:c.3121A>G ENSP00000513286.2:p.Ile1041Val
ENST00000697378.1:n.3797A>G
ENST00000697379.1:c.2392A>G ENSP00000513287.1:p.Ile798Val
ENST00000697379.2:c.3283A>G ENSP00000513287.2:p.Ile1095Val
ENST00000697380.1:n.2481A>G
ENST00000697381.1:n.1972A>G
ENST00000697382.1:c.*54A>G ENSP00000513288.1:n.*54A>G
ENST00000697383.1:c.811A>G ENSP00000513289.1:p.Ile271Val
XM_011545946.1:c.3283A>G XP_011544248.1:p.Ile1095Val
XM_011545946.2:c.3283A>G XP_011544248.1:p.Ile1095Val
XM_011545947.1:c.3208-4268A>G XP_011544249.1:n.3208-4268A>G
XM_011545947.2:c.3208-4268A>G XP_011544249.1:n.3208-4268A>G
XM_011545948.1:c.2392A>G XP_011544250.1:p.Ile798Val
XM_011545948.2:c.2392A>G XP_011544250.1:p.Ile798Val
XM_017023671.1:c.3120-4268A>G XP_016879160.1:n.3120-4268A>G
XM_017023672.2:c.3114-4268A>G XP_016879161.1:n.3114-4268A>G
XM_017023673.2:c.3202-4268A>G XP_016879162.1:n.3202-4268A>G
XR_950851.1:n.3985A>G