Canonical Allele Identifier: CA388787613

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129553A>C , CM000675.2:g.113129553A>C GRCh38
NC_000013.10:g.113783867A>C , CM000675.1:g.113783867A>C GRCh37
NC_000013.9:g.112831868A>C NCBI36
NG_009258.1:g.11755A>C , LRG_548:g.11755A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.172A>C (F10) MANE Select ENSP00000364709.3:p.Met58Leu
ENST00000375551.7:c.172A>C (F10) ENSP00000364701.3:p.Met58Leu
ENST00000375559.7:c.172A>C (F10) ENSP00000364709.3:p.Met58Leu
ENST00000409306.5:c.172A>C (F10) ENSP00000387092.1:p.Met58Leu
ENST00000410083.6:c.172A>C (F10) ENSP00000386320.2:p.Met58Leu
ENST00000477269.5:n.209A>C (F10)
ENST00000483537.1:n.192A>C (F10)
NM_000504.3:c.172A>C , LRG_548t1:c.172A>C (F10) NP_000495.1:p.Met58Leu
NM_001312674.1:c.172A>C (F10) NP_001299603.1:p.Met58Leu
NM_001312675.1:c.172A>C (F10) NP_001299604.1:p.Met58Leu
NR_126424.1:n.41+453T>G (F10-AS1)
NM_000504.4:c.172A>C (F10) MANE Select NP_000495.1:p.Met58Leu
NM_001312674.2:c.172A>C (F10) NP_001299603.1:p.Met58Leu
NM_001312675.2:c.172A>C (F10) NP_001299604.1:p.Met58Leu