Canonical Allele Identifier: CA394882773

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259532G>C (hg19) ; chr16:g.16165675G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165675G>C , CM000678.2:g.16165675G>C	GRCh38
NC_000016.9:g.16259532G>C , CM000678.1:g.16259532G>C	GRCh37
NC_000016.8:g.16167033G>C	NCBI36
NG_007558.2:g.62797C>G
NG_007558.3:g.62943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3254C>G	ENSP00000483331.2:p.Pro1085Arg
ENST00000205557.12:c.3254C>G MANE Select	ENSP00000205557.7:p.Pro1085Arg
ENST00000640696.1:c.269C>G	ENSP00000492197.1:p.Pro90Arg
ENST00000205557.11:c.3254C>G	ENSP00000205557.7:p.Pro1085Arg
ENST00000456970.6:c.3079C>G	ENSP00000405002.2:n.3079C>G
ENST00000622290.4:c.*463C>G	ENSP00000483331.1:n.*463C>G
NM_001171.5:c.3254C>G	NP_001162.4:p.Pro1085Arg
XM_011522479.1:c.3221C>G	XP_011520781.1:p.Pro1074Arg
XM_011522480.1:c.2912C>G	XP_011520782.1:p.Pro971Arg
XM_011522481.1:c.2912C>G	XP_011520783.1:p.Pro971Arg
XR_932836.1:n.3489C>G
XR_932837.1:n.3490C>G
XR_932838.1:n.3490C>G
NM_001351800.1:c.2912C>G	NP_001338729.1:p.Pro971Arg
NR_147784.1:n.3116C>G
XM_011522479.2:c.3221C>G	XP_011520781.1:p.Pro1074Arg
XM_011522481.3:c.2912C>G	XP_011520783.1:p.Pro971Arg
XM_017023212.1:c.3086C>G	XP_016878701.1:p.Pro1029Arg
XM_017023214.1:c.3254C>G	XP_016878703.1:p.Pro1085Arg
XM_024450261.1:c.3290C>G	XP_024306029.1:p.Pro1097Arg
XR_932836.2:n.3435C>G
XR_932837.3:n.3435C>G
XR_932838.3:n.3435C>G
NM_001171.6:c.3254C>G MANE Select	NP_001162.5:p.Pro1085Arg