Canonical Allele Identifier: CA400191703

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263201T>C (hg19) ; chr17:g.50185840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185840T>C , CM000679.2:g.50185840T>C	GRCh38
NC_000017.10:g.48263201T>C , CM000679.1:g.48263201T>C	GRCh37
NC_000017.9:g.45618200T>C	NCBI36
NG_007400.1:g.20800A>G , LRG_1:g.20800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4186A>G MANE Select	ENSP00000225964.6:p.Ile1396Val
ENST00000225964.9:c.4186A>G	ENSP00000225964.5:p.Ile1396Val
NM_000088.3:c.4186A>G , LRG_1t1:c.4186A>G	NP_000079.2:p.Ile1396Val
XM_005257058.3:c.3916A>G	XP_005257115.2:p.Ile1306Val
XM_005257059.3:c.3268A>G	XP_005257116.2:p.Ile1090Val
XM_011524341.1:c.3988A>G	XP_011522643.1:p.Ile1330Val
XM_005257058.4:c.3916A>G	XP_005257115.2:p.Ile1306Val
XM_005257059.4:c.3268A>G	XP_005257116.2:p.Ile1090Val
NM_000088.4:c.4186A>G MANE Select	NP_000079.2:p.Ile1396Val