Canonical Allele Identifier: CA360386753

Gene: RASA1 CCNH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385370T>C , CM000667.2:g.87385370T>C	GRCh38
NC_000005.9:g.86681187T>C , CM000667.1:g.86681187T>C	GRCh37
NC_000005.8:g.86716943T>C	NCBI36
NG_011650.1:g.122037T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002890.3:c.2828T>C (RASA1) MANE Select	NP_002881.1:p.Leu943Pro
ENST00000274376.11:c.2828T>C (RASA1) MANE Select	ENSP00000274376.6:p.Leu943Pro
NM_001364075.1:c.933+9674A>G (CCNH)	NP_001351004.1:n.933+9674A>G
NM_001364075.2:c.933+9674A>G (CCNH)	NP_001351004.1:n.933+9674A>G
NM_002890.2:c.2828T>C (RASA1)	NP_002881.1:p.Leu943Pro
NM_022650.2:c.2297T>C (RASA1)	NP_072179.1:p.Leu766Pro
NM_022650.3:c.2297T>C (RASA1)	NP_072179.1:p.Leu766Pro
NR_157068.1:n.1447+7400A>G (CCNH)
NR_157068.2:n.1447+7400A>G (CCNH)
NR_157069.1:n.1040+7400A>G (CCNH)
NR_157069.2:n.1040+7400A>G (CCNH)
NR_157070.1:n.1204+7400A>G (CCNH)
NR_157070.2:n.1204+7400A>G (CCNH)
ENST00000274376.10:c.2828T>C (RASA1)	ENSP00000274376.6:p.Leu943Pro
ENST00000456692.6:c.2297T>C (RASA1)	ENSP00000411221.2:p.Leu766Pro
ENST00000506290.1:c.2330T>C (RASA1)	ENSP00000420905.1:p.Leu777Pro
ENST00000512763.5:c.2327T>C (RASA1)	ENSP00000422008.1:p.Leu776Pro
ENST00000515800.6:c.*1353T>C (RASA1)	ENSP00000423395.2:n.*1353T>C
ENST00000645953.1:c.*90+7400A>G (CCNH)	ENSP00000494460.1:n.*90+7400A>G
ENST00000646883.1:c.254+7400A>G (CCNH)
XM_011543525.1:c.2741T>C (RASA1)	XP_011541827.1:p.Leu914Pro
XM_011543525.2:c.2741T>C (RASA1)	XP_011541827.1:p.Leu914Pro
XM_011543526.1:c.2828T>C (RASA1)	XP_011541828.1:p.Leu943Pro