Canonical Allele Identifier: CA394881555

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256975C>G (hg19) ; chr16:g.16163118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163118C>G , CM000678.2:g.16163118C>G	GRCh38
NC_000016.9:g.16256975C>G , CM000678.1:g.16256975C>G	GRCh37
NC_000016.8:g.16164476C>G	NCBI36
NG_007558.2:g.65354G>C
NG_007558.3:g.65500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3381G>C	ENSP00000483331.2:p.Met1127Ile
ENST00000205557.12:c.3381G>C MANE Select	ENSP00000205557.7:p.Met1127Ile
ENST00000640696.1:c.321-1554G>C	ENSP00000492197.1:n.321-1554G>C
ENST00000205557.11:c.3381G>C	ENSP00000205557.7:p.Met1127Ile
ENST00000456970.6:c.3132-1554G>C	ENSP00000405002.2:n.3132-1554G>C
ENST00000622290.4:c.*590G>C	ENSP00000483331.1:n.*590G>C
NM_001171.5:c.3381G>C	NP_001162.4:p.Met1127Ile
XM_011522479.1:c.3348G>C	XP_011520781.1:p.Met1116Ile
XM_011522480.1:c.3039G>C	XP_011520782.1:p.Met1013Ile
XM_011522481.1:c.3039G>C	XP_011520783.1:p.Met1013Ile
XR_932836.1:n.3616G>C
XR_932837.1:n.3543-1554G>C
XR_932838.1:n.3543-1554G>C
XR_933133.1:n.407+275C>G
XR_933134.1:n.754+275C>G
NM_001351800.1:c.3039G>C	NP_001338729.1:p.Met1013Ile
NR_147784.1:n.3169-1554G>C
XM_011522479.2:c.3348G>C	XP_011520781.1:p.Met1116Ile
XM_011522481.3:c.3039G>C	XP_011520783.1:p.Met1013Ile
XM_017023212.1:c.3213G>C	XP_016878701.1:p.Met1071Ile
XM_017023214.1:c.3307-1554G>C	XP_016878703.1:n.3307-1554G>C
XM_024450261.1:c.3417G>C	XP_024306029.1:p.Met1139Ile
XR_932836.2:n.3562G>C
XR_932837.3:n.3488-1554G>C
XR_932838.3:n.3488-1554G>C
NM_001171.6:c.3381G>C MANE Select	NP_001162.5:p.Met1127Ile