Canonical Allele Identifier: CA1489869

Gene: CNST

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.246591690T>C , CM000663.2:g.246591690T>C	GRCh38
NC_000001.10:g.246754992T>C , CM000663.1:g.246754992T>C	GRCh37
NC_000001.9:g.244821615T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366513.9:c.128T>C MANE Select	ENSP00000355470.4:p.Leu43Pro
ENST00000366511.1:c.128T>C	ENSP00000355468.1:p.Leu43Pro
ENST00000366512.7:c.128T>C	ENSP00000355469.3:p.Leu43Pro
ENST00000366513.8:c.128T>C	ENSP00000355470.4:p.Leu43Pro
ENST00000483271.1:n.399T>C
NM_001139459.1:c.128T>C	NP_001132931.1:p.Leu43Pro
NM_152609.2:c.128T>C	NP_689822.2:p.Leu43Pro
XM_005273081.3:c.128T>C	XP_005273138.2:p.Leu43Pro
XM_005273083.3:c.-162T>C	XP_005273140.1:n.-162T>C
XM_011544110.1:c.128T>C	XP_011542412.1:p.Leu43Pro
XM_011544111.1:c.128T>C	XP_011542413.1:p.Leu43Pro
XM_011544112.1:c.-30+25027T>C	XP_011542414.1:n.-30+25027T>C
XM_011544113.1:c.-162T>C	XP_011542415.1:n.-162T>C
XR_949358.1:n.2104-262A>G
XR_949359.1:n.2104-262A>G
XR_949360.1:n.2103+7242A>G
XM_005273083.5:c.-162T>C	XP_005273140.1:n.-162T>C
XM_011544110.3:c.128T>C	XP_011542412.1:p.Leu43Pro
XM_011544113.2:c.-162T>C	XP_011542415.1:n.-162T>C
XM_011544114.2:c.-94+25027T>C	XP_011542416.1:n.-94+25027T>C
XM_017000487.1:c.-383T>C	XP_016855976.1:n.-383T>C
XM_017000488.1:c.-345T>C	XP_016855977.1:n.-345T>C
XM_017000489.2:c.-345T>C	XP_016855978.1:n.-345T>C
XM_024453697.1:c.-1189T>C	XP_024309465.1:n.-1189T>C
NM_152609.3:c.128T>C MANE Select	NP_689822.2:p.Leu43Pro
NM_001139459.2:c.128T>C	NP_001132931.1:p.Leu43Pro