Canonical Allele Identifier: CA2155958587
Gene: SERPINA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94390577G>C , CM000676.2:g.94390577G>C GRCh38
NC_000014.8:g.94856914G>C , CM000676.1:g.94856914G>C GRCh37
NC_000014.7:g.93926667G>C NCBI36
NG_008290.1:g.5116C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355814.8:c.-162C>G ENSP00000348068.4:n.-162C>G
ENST00000393088.8:c.-439C>G ENSP00000376803.4:n.-439C>G
ENST00000404814.8:c.-226C>G ENSP00000385960.4:n.-226C>G
ENST00000437397.5:c.-266C>G ENSP00000408474.1:n.-266C>G
ENST00000440909.5:c.-125C>G ENSP00000390299.1:n.-125C>G
ENST00000448921.5:c.-458C>G ENSP00000416066.1:n.-458C>G
ENST00000449399.7:c.-229C>G ENSP00000416354.3:n.-229C>G
ENST00000553327.5:c.-266C>G ENSP00000452480.1:n.-266C>G
ENST00000555289.5:n.59C>G
ENST00000556955.5:c.-162C>G ENSP00000451098.1:n.-162C>G
ENST00000557093.1:n.59C>G
ENST00000557118.5:c.-458C>G ENSP00000451826.1:n.-458C>G
ENST00000557361.5:n.59C>G
ENST00000557492.5:c.-418C>G ENSP00000452452.1:n.-418C>G
NM_001002235.2:c.-125C>G NP_001002235.1:n.-125C>G
NM_001002236.2:c.-439C>G NP_001002236.1:n.-439C>G
NM_001127700.1:c.-162C>G NP_001121172.1:n.-162C>G
NM_001127701.1:c.-458C>G NP_001121173.1:n.-458C>G
NM_001127702.1:c.-266C>G NP_001121174.1:n.-266C>G
NM_001127703.1:c.-421C>G NP_001121175.1:n.-421C>G
NM_001127704.1:c.-418C>G NP_001121176.1:n.-418C>G
NM_001127705.1:c.-436C>G NP_001121177.1:n.-436C>G
NM_001127706.1:c.-229C>G NP_001121178.1:n.-229C>G
NM_001127707.1:c.-226C>G NP_001121179.1:n.-226C>G
XM_017021370.1:c.-364C>G XP_016876859.1:n.-364C>G
NM_001002235.3:c.-125C>G NP_001002235.1:n.-125C>G
NM_001002236.3:c.-439C>G NP_001002236.1:n.-439C>G
NM_001127700.2:c.-162C>G NP_001121172.1:n.-162C>G
NM_001127701.2:c.-458C>G NP_001121173.1:n.-458C>G
NM_001127702.2:c.-266C>G NP_001121174.1:n.-266C>G
NM_001127703.2:c.-421C>G NP_001121175.1:n.-421C>G
NM_001127704.2:c.-418C>G NP_001121176.1:n.-418C>G
NM_001127705.2:c.-436C>G NP_001121177.1:n.-436C>G
NM_001127706.2:c.-229C>G NP_001121178.1:n.-229C>G
NM_001127707.2:c.-226C>G NP_001121179.1:n.-226C>G