Canonical Allele Identifier: CA500844339

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265487A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188126A>C , CM000679.2:g.50188126A>C	GRCh38
NC_000017.10:g.48265487A>C , CM000679.1:g.48265487A>C	GRCh37
NC_000017.9:g.45620486A>C	NCBI36
NG_007400.1:g.18514T>G , LRG_1:g.18514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3231T>G MANE Select	ENSP00000225964.6:p.Pro1077=
ENST00000225964.9:c.3231T>G	ENSP00000225964.5:p.Pro1077=
ENST00000486572.1:n.429T>G
ENST00000511732.1:n.555T>G
NM_000088.3:c.3231T>G , LRG_1t1:c.3231T>G	NP_000079.2:p.Pro1077=
XM_005257058.3:c.2961T>G	XP_005257115.2:p.Pro987=
XM_005257059.3:c.2313T>G	XP_005257116.2:p.Pro771=
XM_011524341.1:c.3033T>G	XP_011522643.1:p.Pro1011=
XM_005257058.4:c.2961T>G	XP_005257115.2:p.Pro987=
XM_005257059.4:c.2313T>G	XP_005257116.2:p.Pro771=
NM_000088.4:c.3231T>G MANE Select	NP_000079.2:p.Pro1077=