Canonical Allele Identifier: CA913203354

Gene: SERPINA1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.[94378610C>T;94383203A>G] , CM000676.2:g.[94378610C>T;94383203A>G]	GRCh38
NC_000014.8:g.[94844947C>T;94849540A>G] , CM000676.1:g.[94844947C>T;94849540A>G]	GRCh37
NC_000014.7:g.[93914700C>T;93919293A>G]	NCBI36
NG_008290.1:g.[12490T>C;17083G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.[35T>C;1096G>A] MANE Select	ENSP00000376802.4:p.[Leu12Pro;Glu366Lys]
ENST00000636712.1:c.[35T>C;1096G>A]	ENSP00000490054.1:p.[Leu12Pro;Glu366Lys]
ENST00000355814.8:c.[35T>C;1096G>A]	ENSP00000348068.4:p.[Leu12Pro;Glu366Lys]
ENST00000393087.8:c.[35T>C;1096G>A]	ENSP00000376802.4:p.[Leu12Pro;Glu366Lys]
ENST00000393088.8:c.[35T>C;1096G>A]	ENSP00000376803.4:p.[Leu12Pro;Glu366Lys]
ENST00000404814.8:c.[35T>C;1096G>A]	ENSP00000385960.4:p.[Leu12Pro;Glu366Lys]
ENST00000437397.5:c.[35T>C;1096G>A]	ENSP00000408474.1:p.[Leu12Pro;Glu366Lys]
ENST00000440909.5:c.[35T>C;1096G>A]	ENSP00000390299.1:p.[Leu12Pro;Glu366Lys]
ENST00000448921.5:c.[35T>C;1096G>A]	ENSP00000416066.1:p.[Leu12Pro;Glu366Lys]
ENST00000449399.7:c.[35T>C;1096G>A]	ENSP00000416354.3:p.[Leu12Pro;Glu366Lys]
ENST00000489769.1:c.[35T>C;*395G>A]	ENSP00000451525.1:[p.Leu12Pro;n.*395G>A]
NM_000295.4:c.[35T>C;1096G>A]	NP_000286.3:p.[Leu12Pro;Glu366Lys]
NM_001002235.2:c.[35T>C;1096G>A]	NP_001002235.1:p.[Leu12Pro;Glu366Lys]
NM_001002236.2:c.[35T>C;1096G>A]	NP_001002236.1:p.[Leu12Pro;Glu366Lys]
NM_001127700.1:c.[35T>C;1096G>A]	NP_001121172.1:p.[Leu12Pro;Glu366Lys]
NM_001127701.1:c.[35T>C;1096G>A]	NP_001121173.1:p.[Leu12Pro;Glu366Lys]
NM_001127702.1:c.[35T>C;1096G>A]	NP_001121174.1:p.[Leu12Pro;Glu366Lys]
NM_001127703.1:c.[35T>C;1096G>A]	NP_001121175.1:p.[Leu12Pro;Glu366Lys]
NM_001127704.1:c.[35T>C;1096G>A]	NP_001121176.1:p.[Leu12Pro;Glu366Lys]
NM_001127705.1:c.[35T>C;1096G>A]	NP_001121177.1:p.[Leu12Pro;Glu366Lys]
NM_001127706.1:c.[35T>C;1096G>A]	NP_001121178.1:p.[Leu12Pro;Glu366Lys]
NM_001127707.1:c.[35T>C;1096G>A]	NP_001121179.1:p.[Leu12Pro;Glu366Lys]
XM_017021370.1:c.[35T>C;1096G>A]	XP_016876859.1:p.[Leu12Pro;Glu366Lys]
NM_000295.5:c.[35T>C;1096G>A] MANE Select	NP_000286.3:p.[Leu12Pro;Glu366Lys]
NM_001002235.3:c.[35T>C;1096G>A]	NP_001002235.1:p.[Leu12Pro;Glu366Lys]
NM_001002236.3:c.[35T>C;1096G>A]	NP_001002236.1:p.[Leu12Pro;Glu366Lys]
NM_001127700.2:c.[35T>C;1096G>A]	NP_001121172.1:p.[Leu12Pro;Glu366Lys]
NM_001127701.2:c.[35T>C;1096G>A]	NP_001121173.1:p.[Leu12Pro;Glu366Lys]
NM_001127702.2:c.[35T>C;1096G>A]	NP_001121174.1:p.[Leu12Pro;Glu366Lys]
NM_001127703.2:c.[35T>C;1096G>A]	NP_001121175.1:p.[Leu12Pro;Glu366Lys]
NM_001127704.2:c.[35T>C;1096G>A]	NP_001121176.1:p.[Leu12Pro;Glu366Lys]
NM_001127705.2:c.[35T>C;1096G>A]	NP_001121177.1:p.[Leu12Pro;Glu366Lys]
NM_001127706.2:c.[35T>C;1096G>A]	NP_001121178.1:p.[Leu12Pro;Glu366Lys]
NM_001127707.2:c.[35T>C;1096G>A]	NP_001121179.1:p.[Leu12Pro;Glu366Lys]