Canonical Allele Identifier: CA353866

Gene: SERPINA1

Linked Data

• ClinVar Variation Id: 219354
• ClinVar RCV Id: RCV000205893

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.[94381049G>A;94383051G>A] , CM000676.2:g.[94381049G>A;94383051G>A]	GRCh38
NC_000014.8:g.[94847386G>A;94849388G>A] , CM000676.1:g.[94847386G>A;94849388G>A]	GRCh37
NC_000014.7:g.[93917139G>A;93919141G>A]	NCBI36
NG_008290.1:g.[12642C>T;14644C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000393087.9:c.[187C>T;739C>T] MANE Select	ENSP00000376802.4:p.[Arg63Cys;Arg247Cys]
ENST00000636712.1:c.[187C>T;739C>T]	ENSP00000490054.1:p.[Arg63Cys;Arg247Cys]
ENST00000355814.8:c.[187C>T;739C>T]	ENSP00000348068.4:p.[Arg63Cys;Arg247Cys]
ENST00000393087.8:c.[187C>T;739C>T]	ENSP00000376802.4:p.[Arg63Cys;Arg247Cys]
ENST00000393088.8:c.[187C>T;739C>T]	ENSP00000376803.4:p.[Arg63Cys;Arg247Cys]
ENST00000402629.1:c.[187C>T;739C>T]	ENSP00000386094.1:p.[Arg63Cys;Arg247Cys]
ENST00000404814.8:c.[187C>T;739C>T]	ENSP00000385960.4:p.[Arg63Cys;Arg247Cys]
ENST00000437397.5:c.[187C>T;739C>T]	ENSP00000408474.1:p.[Arg63Cys;Arg247Cys]
ENST00000440909.5:c.[187C>T;739C>T]	ENSP00000390299.1:p.[Arg63Cys;Arg247Cys]
ENST00000448921.5:c.[187C>T;739C>T]	ENSP00000416066.1:p.[Arg63Cys;Arg247Cys]
ENST00000449399.7:c.[187C>T;739C>T]	ENSP00000416354.3:p.[Arg63Cys;Arg247Cys]
ENST00000489769.1:c.[187C>T;739C>T]	ENSP00000451525.1:p.[Arg63Cys;Arg247Cys]
NM_000295.4:c.[187C>T;739C>T]	NP_000286.3:p.[Arg63Cys;Arg247Cys]
NM_001002235.2:c.[187C>T;739C>T]	NP_001002235.1:p.[Arg63Cys;Arg247Cys]
NM_001002236.2:c.[187C>T;739C>T]	NP_001002236.1:p.[Arg63Cys;Arg247Cys]
NM_001127700.1:c.[187C>T;739C>T]	NP_001121172.1:p.[Arg63Cys;Arg247Cys]
NM_001127701.1:c.[187C>T;739C>T]	NP_001121173.1:p.[Arg63Cys;Arg247Cys]
NM_001127702.1:c.[187C>T;739C>T]	NP_001121174.1:p.[Arg63Cys;Arg247Cys]
NM_001127703.1:c.[187C>T;739C>T]	NP_001121175.1:p.[Arg63Cys;Arg247Cys]
NM_001127704.1:c.[187C>T;739C>T]	NP_001121176.1:p.[Arg63Cys;Arg247Cys]
NM_001127705.1:c.[187C>T;739C>T]	NP_001121177.1:p.[Arg63Cys;Arg247Cys]
NM_001127706.1:c.[187C>T;739C>T]	NP_001121178.1:p.[Arg63Cys;Arg247Cys]
NM_001127707.1:c.[187C>T;739C>T]	NP_001121179.1:p.[Arg63Cys;Arg247Cys]
XM_017021370.1:c.[187C>T;739C>T]	XP_016876859.1:p.[Arg63Cys;Arg247Cys]
NM_000295.5:c.[187C>T;739C>T] MANE Select	NP_000286.3:p.[Arg63Cys;Arg247Cys]
NM_001002235.3:c.[187C>T;739C>T]	NP_001002235.1:p.[Arg63Cys;Arg247Cys]
NM_001002236.3:c.[187C>T;739C>T]	NP_001002236.1:p.[Arg63Cys;Arg247Cys]
NM_001127700.2:c.[187C>T;739C>T]	NP_001121172.1:p.[Arg63Cys;Arg247Cys]
NM_001127701.2:c.[187C>T;739C>T]	NP_001121173.1:p.[Arg63Cys;Arg247Cys]
NM_001127702.2:c.[187C>T;739C>T]	NP_001121174.1:p.[Arg63Cys;Arg247Cys]
NM_001127703.2:c.[187C>T;739C>T]	NP_001121175.1:p.[Arg63Cys;Arg247Cys]
NM_001127704.2:c.[187C>T;739C>T]	NP_001121176.1:p.[Arg63Cys;Arg247Cys]
NM_001127705.2:c.[187C>T;739C>T]	NP_001121177.1:p.[Arg63Cys;Arg247Cys]
NM_001127706.2:c.[187C>T;739C>T]	NP_001121178.1:p.[Arg63Cys;Arg247Cys]
NM_001127707.2:c.[187C>T;739C>T]	NP_001121179.1:p.[Arg63Cys;Arg247Cys]