Canonical Allele Identifier: CA394876250

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248879C>G (hg19) ; chr16:g.16155022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155022C>G , CM000678.2:g.16155022C>G	GRCh38
NC_000016.9:g.16248879C>G , CM000678.1:g.16248879C>G	GRCh37
NC_000016.8:g.16156380C>G	NCBI36
NG_007558.2:g.73450G>C
NG_007558.3:g.73596G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.755G>C
ENST00000622290.5:c.*64G>C	ENSP00000483331.2:n.*64G>C
ENST00000205557.12:c.3892G>C MANE Select	ENSP00000205557.7:p.Val1298Leu
ENST00000640696.1:c.706G>C	ENSP00000492197.1:p.Val236Leu
ENST00000205557.11:c.3892G>C	ENSP00000205557.7:p.Val1298Leu
ENST00000456970.6:c.3517G>C	ENSP00000405002.2:n.3517G>C
ENST00000576204.5:n.755G>C
ENST00000622290.4:c.*1101G>C	ENSP00000483331.1:n.*1101G>C
NM_001171.5:c.3892G>C	NP_001162.4:p.Val1298Leu
XM_011522479.1:c.3859G>C	XP_011520781.1:p.Val1287Leu
XM_011522480.1:c.3550G>C	XP_011520782.1:p.Val1184Leu
XM_011522481.1:c.3550G>C	XP_011520783.1:p.Val1184Leu
XR_932836.1:n.4190G>C
XR_932837.1:n.3928G>C
XR_932838.1:n.3991G>C
XR_933134.1:n.539-4759C>G
NM_001351800.1:c.3550G>C	NP_001338729.1:p.Val1184Leu
NR_147784.1:n.3554G>C
XM_011522479.2:c.3859G>C	XP_011520781.1:p.Val1287Leu
XM_011522481.3:c.3550G>C	XP_011520783.1:p.Val1184Leu
XM_017023212.1:c.3724G>C	XP_016878701.1:p.Val1242Leu
XM_024450261.1:c.3928G>C	XP_024306029.1:p.Val1310Leu
XR_932836.2:n.4136G>C
XR_932837.3:n.3873G>C
XR_932838.3:n.3936G>C
NM_001171.6:c.3892G>C MANE Select	NP_001162.5:p.Val1298Leu