Canonical Allele Identifier: CA349732683
Community Standard Title: NM_000885.6(ITGA4):c.*2690A>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181538217A>C , CM000664.2:g.181538217A>C GRCh38
NC_000002.11:g.182402944A>C , CM000664.1:g.182402944A>C GRCh37
NC_000002.10:g.182111189A>C NCBI36
NG_021178.1:g.123891T>G
NG_050623.1:g.86326A>C
NG_021178.2:g.123891T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000885.6:c.*2690A>C (ITGA4) MANE Select NP_000876.3:n.*2690A>C
NM_201548.5:c.1566T>G (CERKL) MANE Select NP_963842.1:p.Tyr522Ter
ENST00000397033.7:c.*2690A>C (ITGA4) MANE Select ENSP00000380227.2:n.*2690A>C
ENST00000410087.8:c.1566T>G (CERKL) MANE Select ENSP00000386725.3:p.Tyr522Ter
NM_000885.5:c.*2690A>C (ITGA4) NP_000876.3:n.*2690A>C
NM_001030311.2:c.1644T>G (CERKL) NP_001025482.1:p.Tyr548Ter
NM_001030311.3:c.1644T>G (CERKL) NP_001025482.1:p.Tyr548Ter
NM_001030312.2:c.1227T>G (CERKL) NP_001025483.1:p.Tyr409Ter
NM_001030312.3:c.1227T>G (CERKL) NP_001025483.1:p.Tyr409Ter
NM_001030313.2:c.1359T>G (CERKL) NP_001025484.1:p.Tyr453Ter
NM_001030313.3:c.1359T>G (CERKL) NP_001025484.1:p.Tyr453Ter
NM_001160277.1:c.1512T>G (CERKL) NP_001153749.1:p.Tyr504Ter
NM_001160277.2:c.1512T>G (CERKL) NP_001153749.1:p.Tyr504Ter
NM_201548.4:c.1566T>G (CERKL) NP_963842.1:p.Tyr522Ter
NR_027689.1:n.1471T>G (CERKL)
NR_027689.2:n.1469T>G (CERKL)
NR_027690.1:n.1603T>G (CERKL)
NR_027690.2:n.1601T>G (CERKL)
ENST00000339098.9:c.1644T>G (CERKL) ENSP00000341159.5:p.Tyr548Ter
ENST00000374967.6:c.1502T>G (CERKL) ENSP00000364106.2:n.1502T>G
ENST00000374969.6:c.1227T>G (CERKL) ENSP00000364108.2:p.Tyr409Ter
ENST00000374970.6:c.1359T>G (CERKL) ENSP00000364109.2:p.Tyr453Ter
ENST00000409440.7:c.1512T>G (CERKL) ENSP00000387080.3:p.Tyr504Ter
ENST00000410087.7:c.1566T>G (CERKL) ENSP00000386725.3:p.Tyr522Ter
ENST00000421817.5:c.*822T>G (CERKL) ENSP00000411466.1:n.*822T>G
ENST00000452174.5:c.1370T>G (CERKL) ENSP00000409198.1:n.1370T>G
ENST00000494398.5:n.2358T>G (CERKL)
ENST00000684145.1:c.810T>G (CERKL) ENSP00000508396.1:p.Tyr270Ter