Canonical Allele Identifier: CA2263915120

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188404C= , CM000679.2:g.50188404C=	GRCh38
NC_000017.10:g.48265765C= , CM000679.1:g.48265765C=	GRCh37
NC_000017.9:g.45620764C=	NCBI36
NG_007400.1:g.18236G= , LRG_1:g.18236G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+126G= MANE Select	ENSP00000225964.6:n.3207+126G=
ENST00000225964.9:c.3207+126G=	ENSP00000225964.5:n.3207+126G=
ENST00000486572.1:n.151G=
ENST00000511732.1:n.277G=
NM_000088.3:c.3207+126G= , LRG_1t1:c.3207+126G=	NP_000079.2:n.3207+126G=
XM_005257058.3:c.2937+126G=	XP_005257115.2:n.2937+126G=
XM_005257059.3:c.2289+126G=	XP_005257116.2:n.2289+126G=
XM_011524341.1:c.3009+126G=	XP_011522643.1:n.3009+126G=
XM_005257058.4:c.2937+126G=	XP_005257115.2:n.2937+126G=
XM_005257059.4:c.2289+126G=	XP_005257116.2:n.2289+126G=
NM_000088.4:c.3207+126G= MANE Select	NP_000079.2:n.3207+126G=