Canonical Allele Identifier: CA394878881

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253418A>G (hg19) ; chr16:g.16159561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159561A>G , CM000678.2:g.16159561A>G	GRCh38
NC_000016.9:g.16253418A>G , CM000678.1:g.16253418A>G	GRCh37
NC_000016.8:g.16160919A>G	NCBI36
NG_007558.2:g.68911T>C
NG_007558.3:g.69057T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3656T>C	ENSP00000483331.2:p.Val1219Ala
ENST00000205557.12:c.3656T>C MANE Select	ENSP00000205557.7:p.Val1219Ala
ENST00000640696.1:c.470T>C	ENSP00000492197.1:p.Val157Ala
ENST00000205557.11:c.3656T>C	ENSP00000205557.7:p.Val1219Ala
ENST00000456970.6:c.3281T>C	ENSP00000405002.2:n.3281T>C
ENST00000622290.4:c.*865T>C	ENSP00000483331.1:n.*865T>C
NM_001171.5:c.3656T>C	NP_001162.4:p.Val1219Ala
XM_011522479.1:c.3623T>C	XP_011520781.1:p.Val1208Ala
XM_011522480.1:c.3314T>C	XP_011520782.1:p.Val1105Ala
XM_011522481.1:c.3314T>C	XP_011520783.1:p.Val1105Ala
XR_932836.1:n.3891T>C
XR_932837.1:n.3692T>C
XR_932838.1:n.3692T>C
XR_933134.1:n.539-220A>G
NM_001351800.1:c.3314T>C	NP_001338729.1:p.Val1105Ala
NR_147784.1:n.3318T>C
XM_011522479.2:c.3623T>C	XP_011520781.1:p.Val1208Ala
XM_011522481.3:c.3314T>C	XP_011520783.1:p.Val1105Ala
XM_017023212.1:c.3488T>C	XP_016878701.1:p.Val1163Ala
XM_024450261.1:c.3692T>C	XP_024306029.1:p.Val1231Ala
XR_932836.2:n.3837T>C
XR_932837.3:n.3637T>C
XR_932838.3:n.3637T>C
NM_001171.6:c.3656T>C MANE Select	NP_001162.5:p.Val1219Ala