Canonical Allele Identifier: CA394883925

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244559C>G (hg19) ; chr16:g.16150702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150702C>G , CM000678.2:g.16150702C>G	GRCh38
NC_000016.9:g.16244559C>G , CM000678.1:g.16244559C>G	GRCh37
NC_000016.8:g.16152060C>G	NCBI36
NG_007558.2:g.77770G>C
NG_007558.3:g.77916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*451G>C	ENSP00000483331.2:n.*451G>C
ENST00000205557.12:c.4279G>C MANE Select	ENSP00000205557.7:p.Glu1427Gln
ENST00000640696.1:c.1093G>C	ENSP00000492197.1:p.Glu365Gln
ENST00000205557.11:c.4279G>C	ENSP00000205557.7:p.Glu1427Gln
ENST00000456970.6:c.3904G>C	ENSP00000405002.2:n.3904G>C
ENST00000576204.5:n.1142G>C
ENST00000622290.4:c.*1488G>C	ENSP00000483331.1:n.*1488G>C
NM_001171.5:c.4279G>C	NP_001162.4:p.Glu1427Gln
XM_011522479.1:c.4246G>C	XP_011520781.1:p.Glu1416Gln
XM_011522480.1:c.3937G>C	XP_011520782.1:p.Glu1313Gln
XM_011522481.1:c.3937G>C	XP_011520783.1:p.Glu1313Gln
XR_933134.1:n.538+6412C>G
NM_001351800.1:c.3937G>C	NP_001338729.1:p.Glu1313Gln
NR_147784.1:n.3941G>C
XM_011522479.2:c.4246G>C	XP_011520781.1:p.Glu1416Gln
XM_011522481.3:c.3937G>C	XP_011520783.1:p.Glu1313Gln
XM_017023212.1:c.4111G>C	XP_016878701.1:p.Glu1371Gln
XM_024450261.1:c.4315G>C	XP_024306029.1:p.Glu1439Gln
NM_001171.6:c.4279G>C MANE Select	NP_001162.5:p.Glu1427Gln