Canonical Allele Identifier: CA8644250

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185872T>C , CM000679.2:g.50185872T>C	GRCh38
NC_000017.10:g.48263233T>C , CM000679.1:g.48263233T>C	GRCh37
NC_000017.9:g.45618232T>C	NCBI36
NG_007400.1:g.20768A>G , LRG_1:g.20768A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4154A>G MANE Select	NP_000079.2:p.Lys1385Arg
ENST00000225964.10:c.4154A>G MANE Select	ENSP00000225964.6:p.Lys1385Arg
NM_000088.3:c.4154A>G , LRG_1t1:c.4154A>G	NP_000079.2:p.Lys1385Arg
ENST00000225964.9:c.4154A>G	ENSP00000225964.5:p.Lys1385Arg
ENST00000510710.3:n.1119A>G
XM_005257058.3:c.3884A>G	XP_005257115.2:p.Lys1295Arg
XM_005257058.4:c.3884A>G	XP_005257115.2:p.Lys1295Arg
XM_005257059.3:c.3236A>G	XP_005257116.2:p.Lys1079Arg
XM_005257059.4:c.3236A>G	XP_005257116.2:p.Lys1079Arg
XM_011524341.1:c.3956A>G	XP_011522643.1:p.Lys1319Arg