Canonical Allele Identifier: CA394881704

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16257046G>C (hg19) ; chr16:g.16163189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163189G>C , CM000678.2:g.16163189G>C	GRCh38
NC_000016.9:g.16257046G>C , CM000678.1:g.16257046G>C	GRCh37
NC_000016.8:g.16164547G>C	NCBI36
NG_007558.2:g.65283C>G
NG_007558.3:g.65429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3310C>G	ENSP00000483331.2:p.Leu1104Val
ENST00000205557.12:c.3310C>G MANE Select	ENSP00000205557.7:p.Leu1104Val
ENST00000640696.1:c.321-1625C>G	ENSP00000492197.1:n.321-1625C>G
ENST00000205557.11:c.3310C>G	ENSP00000205557.7:p.Leu1104Val
ENST00000456970.6:c.3132-1625C>G	ENSP00000405002.2:n.3132-1625C>G
ENST00000622290.4:c.*519C>G	ENSP00000483331.1:n.*519C>G
NM_001171.5:c.3310C>G	NP_001162.4:p.Leu1104Val
XM_011522479.1:c.3277C>G	XP_011520781.1:p.Leu1093Val
XM_011522480.1:c.2968C>G	XP_011520782.1:p.Leu990Val
XM_011522481.1:c.2968C>G	XP_011520783.1:p.Leu990Val
XR_932836.1:n.3545C>G
XR_932837.1:n.3543-1625C>G
XR_932838.1:n.3543-1625C>G
XR_933133.1:n.407+346G>C
XR_933134.1:n.754+346G>C
NM_001351800.1:c.2968C>G	NP_001338729.1:p.Leu990Val
NR_147784.1:n.3169-1625C>G
XM_011522479.2:c.3277C>G	XP_011520781.1:p.Leu1093Val
XM_011522481.3:c.2968C>G	XP_011520783.1:p.Leu990Val
XM_017023212.1:c.3142C>G	XP_016878701.1:p.Leu1048Val
XM_017023214.1:c.3307-1625C>G	XP_016878703.1:n.3307-1625C>G
XM_024450261.1:c.3346C>G	XP_024306029.1:p.Leu1116Val
XR_932836.2:n.3491C>G
XR_932837.3:n.3488-1625C>G
XR_932838.3:n.3488-1625C>G
NM_001171.6:c.3310C>G MANE Select	NP_001162.5:p.Leu1104Val