Canonical Allele Identifier: CA394876259

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248881A>C (hg19) ; chr16:g.16155024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155024A>C , CM000678.2:g.16155024A>C	GRCh38
NC_000016.9:g.16248881A>C , CM000678.1:g.16248881A>C	GRCh37
NC_000016.8:g.16156382A>C	NCBI36
NG_007558.2:g.73448T>G
NG_007558.3:g.73594T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.753T>G
ENST00000622290.5:c.*62T>G	ENSP00000483331.2:n.*62T>G
ENST00000205557.12:c.3890T>G MANE Select	ENSP00000205557.7:p.Ile1297Ser
ENST00000640696.1:c.704T>G	ENSP00000492197.1:p.Ile235Ser
ENST00000205557.11:c.3890T>G	ENSP00000205557.7:p.Ile1297Ser
ENST00000456970.6:c.3515T>G	ENSP00000405002.2:n.3515T>G
ENST00000576204.5:n.753T>G
ENST00000622290.4:c.*1099T>G	ENSP00000483331.1:n.*1099T>G
NM_001171.5:c.3890T>G	NP_001162.4:p.Ile1297Ser
XM_011522479.1:c.3857T>G	XP_011520781.1:p.Ile1286Ser
XM_011522480.1:c.3548T>G	XP_011520782.1:p.Ile1183Ser
XM_011522481.1:c.3548T>G	XP_011520783.1:p.Ile1183Ser
XR_932836.1:n.4188T>G
XR_932837.1:n.3926T>G
XR_932838.1:n.3989T>G
XR_933134.1:n.539-4757A>C
NM_001351800.1:c.3548T>G	NP_001338729.1:p.Ile1183Ser
NR_147784.1:n.3552T>G
XM_011522479.2:c.3857T>G	XP_011520781.1:p.Ile1286Ser
XM_011522481.3:c.3548T>G	XP_011520783.1:p.Ile1183Ser
XM_017023212.1:c.3722T>G	XP_016878701.1:p.Ile1241Ser
XM_024450261.1:c.3926T>G	XP_024306029.1:p.Ile1309Ser
XR_932836.2:n.4134T>G
XR_932837.3:n.3871T>G
XR_932838.3:n.3934T>G
NM_001171.6:c.3890T>G MANE Select	NP_001162.5:p.Ile1297Ser