Canonical Allele Identifier: CA394890230

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16198061-G-A
• MyVariant Identifiers: chr16:g.16291918G>A (hg19) ; chr16:g.16198061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198061G>A , CM000678.2:g.16198061G>A	GRCh38
NC_000016.9:g.16291918G>A , CM000678.1:g.16291918G>A	GRCh37
NC_000016.8:g.16199419G>A	NCBI36
NG_007558.2:g.30411C>T
NG_007558.3:g.30557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1298C>T	ENSP00000507301.1:p.Pro433Leu
ENST00000622290.5:c.1298C>T	ENSP00000483331.2:p.Pro433Leu
ENST00000205557.12:c.1298C>T MANE Select	ENSP00000205557.7:p.Pro433Leu
ENST00000205557.11:c.1298C>T	ENSP00000205557.7:p.Pro433Leu
ENST00000456970.6:c.1298C>T	ENSP00000405002.2:p.Pro433Leu
ENST00000574094.5:n.1394C>T
ENST00000622290.4:c.1298C>T	ENSP00000483331.1:p.Pro433Leu
NM_001171.5:c.1298C>T	NP_001162.4:p.Pro433Leu
XM_011522479.1:c.1298C>T	XP_011520781.1:p.Pro433Leu
XM_011522480.1:c.956C>T	XP_011520782.1:p.Pro319Leu
XM_011522481.1:c.956C>T	XP_011520783.1:p.Pro319Leu
XM_011522482.1:c.1298C>T	XP_011520784.1:p.Pro433Leu
XR_932836.1:n.1533C>T
XR_932837.1:n.1534C>T
XR_932838.1:n.1534C>T
NM_001351800.1:c.956C>T	NP_001338729.1:p.Pro319Leu
NR_147784.1:n.1335C>T
XM_011522479.2:c.1298C>T	XP_011520781.1:p.Pro433Leu
XM_011522481.3:c.956C>T	XP_011520783.1:p.Pro319Leu
XM_011522482.3:c.1298C>T	XP_011520784.1:p.Pro433Leu
XM_017023212.1:c.1298C>T	XP_016878701.1:p.Pro433Leu
XM_017023214.1:c.1298C>T	XP_016878703.1:p.Pro433Leu
XM_024450261.1:c.1334C>T	XP_024306029.1:p.Pro445Leu
XR_932836.2:n.1479C>T
XR_932837.3:n.1479C>T
XR_932838.3:n.1479C>T
NM_001171.6:c.1298C>T MANE Select	NP_001162.5:p.Pro433Leu