Canonical Allele Identifier: CA394875687

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248802G>C (hg19) ; chr16:g.16154945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154945G>C , CM000678.2:g.16154945G>C	GRCh38
NC_000016.9:g.16248802G>C , CM000678.1:g.16248802G>C	GRCh37
NC_000016.8:g.16156303G>C	NCBI36
NG_007558.2:g.73527C>G
NG_007558.3:g.73673C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.832C>G
ENST00000622290.5:c.*141C>G	ENSP00000483331.2:n.*141C>G
ENST00000205557.12:c.3969C>G MANE Select	ENSP00000205557.7:p.Ile1323Met
ENST00000640696.1:c.783C>G	ENSP00000492197.1:p.Ile261Met
ENST00000205557.11:c.3969C>G	ENSP00000205557.7:p.Ile1323Met
ENST00000456970.6:c.3594C>G	ENSP00000405002.2:n.3594C>G
ENST00000576204.5:n.832C>G
ENST00000622290.4:c.*1178C>G	ENSP00000483331.1:n.*1178C>G
NM_001171.5:c.3969C>G	NP_001162.4:p.Ile1323Met
XM_011522479.1:c.3936C>G	XP_011520781.1:p.Ile1312Met
XM_011522480.1:c.3627C>G	XP_011520782.1:p.Ile1209Met
XM_011522481.1:c.3627C>G	XP_011520783.1:p.Ile1209Met
XR_932837.1:n.4005C>G
XR_933134.1:n.539-4836G>C
NM_001351800.1:c.3627C>G	NP_001338729.1:p.Ile1209Met
NR_147784.1:n.3631C>G
XM_011522479.2:c.3936C>G	XP_011520781.1:p.Ile1312Met
XM_011522481.3:c.3627C>G	XP_011520783.1:p.Ile1209Met
XM_017023212.1:c.3801C>G	XP_016878701.1:p.Ile1267Met
XM_024450261.1:c.4005C>G	XP_024306029.1:p.Ile1335Met
XR_932837.3:n.3950C>G
NM_001171.6:c.3969C>G MANE Select	NP_001162.5:p.Ile1323Met