Canonical Allele Identifier: CA8644941

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191846G>A , CM000679.2:g.50191846G>A	GRCh38
NC_000017.10:g.48269207G>A , CM000679.1:g.48269207G>A	GRCh37
NC_000017.9:g.45624206G>A	NCBI36
NG_007400.1:g.14794C>T , LRG_1:g.14794C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2069C>T MANE Select	NP_000079.2:p.Pro690Leu
ENST00000225964.10:c.2069C>T MANE Select	ENSP00000225964.6:p.Pro690Leu
NM_000088.3:c.2069C>T , LRG_1t1:c.2069C>T	NP_000079.2:p.Pro690Leu
ENST00000225964.9:c.2069C>T	ENSP00000225964.5:p.Pro690Leu
ENST00000476387.1:n.418C>T
XM_005257058.3:c.2069C>T	XP_005257115.2:p.Pro690Leu
XM_005257058.4:c.2069C>T	XP_005257115.2:p.Pro690Leu
XM_005257059.3:c.1151C>T	XP_005257116.2:p.Pro384Leu
XM_005257059.4:c.1151C>T	XP_005257116.2:p.Pro384Leu
XM_011524341.1:c.1871C>T	XP_011522643.1:p.Pro624Leu