Canonical Allele Identifier: CA2838458728
Gene: COBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.51130093T>G , CM000669.2:g.51130093T>G GRCh38
NC_000007.13:g.51197790T>G , CM000669.1:g.51197790T>G GRCh37
NC_000007.12:g.51165284T>G NCBI36
NG_051816.1:g.191769A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000431948.6:c.1032+6065A>C ENSP00000413498.2:n.1032+6065A>C
ENST00000265136.12:c.957+6065A>C MANE Select ENSP00000265136.7:n.957+6065A>C
ENST00000648294.1:c.909+6065A>C ENSP00000497998.1:n.909+6065A>C
ENST00000265136.11:c.957+6065A>C ENSP00000265136.7:n.957+6065A>C
ENST00000395540.6:c.957+6065A>C ENSP00000378910.2:n.957+6065A>C
ENST00000395542.6:c.957+6065A>C ENSP00000378912.3:n.957+6065A>C
ENST00000431948.5:c.441+6065A>C ENSP00000413498.1:n.441+6065A>C
ENST00000441453.5:c.957+6065A>C ENSP00000399500.1:n.957+6065A>C
ENST00000445054.5:c.633+6065A>C ENSP00000401204.1:n.633+6065A>C
ENST00000452534.5:c.712+6065A>C
ENST00000632460.1:c.1002+6065A>C ENSP00000488001.1:n.1002+6065A>C
NM_001287436.1:c.957+6065A>C NP_001274365.1:n.957+6065A>C
NM_001287438.1:c.957+6065A>C NP_001274367.1:n.957+6065A>C
NM_015198.3:c.957+6065A>C NP_056013.2:n.957+6065A>C
XM_005271750.1:c.1002+6065A>C XP_005271807.1:n.1002+6065A>C
XM_005271751.1:c.957+6065A>C XP_005271808.1:n.957+6065A>C
XM_005271756.1:c.957+6065A>C XP_005271813.1:n.957+6065A>C
XM_011515234.1:c.1077+6065A>C XP_011513536.1:n.1077+6065A>C
XM_011515235.1:c.1032+6065A>C XP_011513537.1:n.1032+6065A>C
XM_011515236.1:c.1077+6065A>C XP_011513538.1:n.1077+6065A>C
XM_011515237.1:c.1077+6065A>C XP_011513539.1:n.1077+6065A>C
XM_011515238.1:c.1077+6065A>C XP_011513540.1:n.1077+6065A>C
XM_011515239.1:c.1077+6065A>C XP_011513541.1:n.1077+6065A>C
XM_011515240.1:c.1032+6065A>C XP_011513542.1:n.1032+6065A>C
XM_011515241.1:c.144+6065A>C XP_011513543.1:n.144+6065A>C
NM_001287436.2:c.957+6065A>C NP_001274365.1:n.957+6065A>C
NM_001287438.2:c.957+6065A>C NP_001274367.1:n.957+6065A>C
NM_001346441.1:c.957+6065A>C NP_001333370.1:n.957+6065A>C
NM_001346442.1:c.957+6065A>C NP_001333371.1:n.957+6065A>C
NM_001346443.1:c.957+6065A>C NP_001333372.1:n.957+6065A>C
NM_001346444.1:c.957+6065A>C NP_001333373.1:n.957+6065A>C
NM_015198.4:c.957+6065A>C NP_056013.2:n.957+6065A>C
XM_017011898.1:c.1002+6065A>C XP_016867387.1:n.1002+6065A>C
NM_015198.5:c.957+6065A>C MANE Select NP_056013.2:n.957+6065A>C
NM_001287438.3:c.957+6065A>C NP_001274367.1:n.957+6065A>C
NM_001346441.2:c.957+6065A>C NP_001333370.1:n.957+6065A>C
NM_001346442.2:c.957+6065A>C NP_001333371.1:n.957+6065A>C
NM_001346443.2:c.957+6065A>C NP_001333372.1:n.957+6065A>C
NM_001287436.3:c.957+6065A>C NP_001274365.1:n.957+6065A>C
NM_001346444.2:c.957+6065A>C NP_001333373.1:n.957+6065A>C